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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: 5-151786705-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151786705&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151786705,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005754.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "NM_005754.3",
"protein_id": "NP_005745.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 10227,
"mane_select": "ENST00000356245.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000356245.8",
"protein_id": "ENSP00000348578.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 10227,
"mane_select": "NM_005754.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000394123.7",
"protein_id": "ENSP00000377681.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 10240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000520177.6",
"protein_id": "ENSP00000427810.2",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 367,
"cds_start": 85,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "n.188A>G",
"hgvs_p": null,
"transcript": "ENST00000518726.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "n.219A>G",
"hgvs_p": null,
"transcript": "ENST00000519832.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000677105.1",
"protein_id": "ENSP00000504722.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 476,
"cds_start": 85,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678646.1",
"protein_id": "ENSP00000504525.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 476,
"cds_start": 85,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 10257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "NM_198395.2",
"protein_id": "NP_938405.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000522761.6",
"protein_id": "ENSP00000430480.2",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000676827.1",
"protein_id": "ENSP00000504627.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000677323.1",
"protein_id": "ENSP00000502880.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 10540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678070.1",
"protein_id": "ENSP00000503039.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678101.1",
"protein_id": "ENSP00000504140.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678925.1",
"protein_id": "ENSP00000503699.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 466,
"cds_start": 85,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 10011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678564.1",
"protein_id": "ENSP00000504156.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 426,
"cds_start": 85,
"cds_end": null,
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"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678964.1",
"protein_id": "ENSP00000503385.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 426,
"cds_start": 85,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 10622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000678854.1",
"protein_id": "ENSP00000503080.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 170,
"cds_start": 85,
"cds_end": null,
"cds_length": 513,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000520578.6",
"protein_id": "ENSP00000429920.1",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 116,
"cds_start": 85,
"cds_end": null,
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"cdna_start": 263,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000523519.5",
"protein_id": "ENSP00000430738.1",
"transcript_support_level": 4,
"aa_start": 29,
"aa_end": null,
"aa_length": 105,
"cds_start": 85,
"cds_end": null,
"cds_length": 318,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000520006.2",
"protein_id": "ENSP00000428469.2",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 30,
"cds_start": 85,
"cds_end": null,
"cds_length": 95,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000627077.2",
"protein_id": "ENSP00000486887.2",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 30,
"cds_start": 85,
"cds_end": null,
"cds_length": 95,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val",
"transcript": "ENST00000677284.1",
"protein_id": "ENSP00000504125.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 30,
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{
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},
{
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},
{
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},
{
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],
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},
{
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},
{
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],
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},
{
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],
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"gene_symbol": "G3BP1",
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"transcript": "ENST00000677909.1",
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}
],
"gene_symbol": "G3BP1",
"gene_hgnc_id": 30292,
"dbsnp": null,
"frequency_reference_population": 6.897008e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89701e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3158693313598633,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.4776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.21,
"phylop100way_prediction": "Uncertain_significance",
"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_005754.3",
"gene_symbol": "G3BP1",
"hgnc_id": 30292,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Met29Val"
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],
"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
}