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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-35724691-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35724691&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35724691,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_184234.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "NM_184234.3",
"protein_id": "NP_909122.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 530,
"cds_start": 566,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253363.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_184234.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000253363.11",
"protein_id": "ENSP00000253363.6",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 530,
"cds_start": 566,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_184234.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253363.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000361162.10",
"protein_id": "ENSP00000354437.6",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 524,
"cds_start": 566,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361162.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asn167Ser",
"transcript": "ENST00000528062.7",
"protein_id": "ENSP00000436747.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 508,
"cds_start": 500,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528062.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Asn197Ser",
"transcript": "ENST00000913155.1",
"protein_id": "ENSP00000583214.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 538,
"cds_start": 590,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913155.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Asn195Ser",
"transcript": "ENST00000862899.1",
"protein_id": "ENSP00000532958.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 536,
"cds_start": 584,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862899.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000913160.1",
"protein_id": "ENSP00000583219.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 535,
"cds_start": 566,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913160.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.Asn194Ser",
"transcript": "ENST00000913162.1",
"protein_id": "ENSP00000583221.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 535,
"cds_start": 581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913162.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Asn197Ser",
"transcript": "ENST00000913163.1",
"protein_id": "ENSP00000583222.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 532,
"cds_start": 590,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913163.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Asn195Ser",
"transcript": "ENST00000913156.1",
"protein_id": "ENSP00000583215.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 530,
"cds_start": 584,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913156.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000954304.1",
"protein_id": "ENSP00000624363.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 530,
"cds_start": 566,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954304.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000954306.1",
"protein_id": "ENSP00000624365.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 530,
"cds_start": 566,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954306.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "NM_001323424.2",
"protein_id": "NP_001310353.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 529,
"cds_start": 563,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323424.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000862909.1",
"protein_id": "ENSP00000532968.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 529,
"cds_start": 563,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862909.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.Asn194Ser",
"transcript": "ENST00000913164.1",
"protein_id": "ENSP00000583223.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 529,
"cds_start": 581,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913164.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000913157.1",
"protein_id": "ENSP00000583216.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 528,
"cds_start": 566,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913157.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "NM_004902.4",
"protein_id": "NP_004893.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 524,
"cds_start": 566,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004902.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000862901.1",
"protein_id": "ENSP00000532960.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 524,
"cds_start": 566,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862901.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000954300.1",
"protein_id": "ENSP00000624359.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 524,
"cds_start": 566,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954300.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000954303.1",
"protein_id": "ENSP00000624362.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 524,
"cds_start": 566,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954303.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000954302.1",
"protein_id": "ENSP00000624361.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 523,
"cds_start": 563,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954302.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM39",
"gene_hgnc_id": 15923,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser",
"transcript": "ENST00000862910.1",
"protein_id": "ENSP00000532969.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 522,
"cds_start": 566,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"protein_coding": false,
"strand": false,
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],
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"exon_count": 18,
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"transcript": "ENST00000403542.6",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 10,
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"gene_symbol": "RBM39",
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"transcript": "ENST00000412738.5",
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"feature": "ENST00000412738.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "RBM39",
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"transcript": "ENST00000429968.5",
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"biotype": "nonsense_mediated_decay",
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{
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"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "RBM39",
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"transcript": "ENST00000444878.5",
"protein_id": "ENSP00000394602.1",
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"aa_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000444878.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 19,
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"gene_symbol": "RBM39",
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"hgvs_c": "n.*516A>G",
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"transcript": "ENST00000656873.1",
"protein_id": "ENSP00000499479.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000656873.1"
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],
"gene_symbol": "RBM39",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3536585569381714,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.4842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.008,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_184234.3",
"gene_symbol": "RBM39",
"hgnc_id": 15923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Asn189Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}