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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: 1-2586905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2586905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2586905,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001195736.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_152371.5",
"protein_id": "NP_689584.5",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 198,
"cds_start": 20,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419916.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152371.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000419916.8",
"protein_id": "ENSP00000394405.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 198,
"cds_start": 20,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152371.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419916.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"transcript": "ENST00000444521.6",
"protein_id": "ENSP00000413218.3",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 110,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444521.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001195736.3",
"protein_id": "NP_001182665.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 216,
"cds_start": 20,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195736.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000378424.9",
"protein_id": "ENSP00000367681.5",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 201,
"cds_start": 20,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378424.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000923154.1",
"protein_id": "ENSP00000593213.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 196,
"cds_start": 20,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923154.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000877699.1",
"protein_id": "ENSP00000547758.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 195,
"cds_start": 20,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877699.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001195737.3",
"protein_id": "NP_001182666.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 194,
"cds_start": 20,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195737.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000877697.1",
"protein_id": "ENSP00000547756.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 194,
"cds_start": 20,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877697.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000971684.1",
"protein_id": "ENSP00000641743.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 194,
"cds_start": 20,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971684.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"transcript": "ENST00000378425.9",
"protein_id": "ENSP00000367682.6",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 192,
"cds_start": 110,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378425.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000923153.1",
"protein_id": "ENSP00000593212.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 184,
"cds_start": 20,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923153.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001195738.3",
"protein_id": "NP_001182667.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 183,
"cds_start": 20,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195738.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000378427.6",
"protein_id": "ENSP00000367684.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 183,
"cds_start": 20,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378427.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000465233.6",
"protein_id": "ENSP00000462185.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 177,
"cds_start": 20,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465233.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001195740.3",
"protein_id": "NP_001182669.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 162,
"cds_start": 20,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195740.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "NM_001195741.3",
"protein_id": "NP_001182670.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 161,
"cds_start": 20,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195741.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000537325.6",
"protein_id": "ENSP00000443605.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 161,
"cds_start": 20,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537325.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val",
"transcript": "ENST00000498083.2",
"protein_id": "ENSP00000463127.2",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 150,
"cds_start": 20,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498083.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"transcript": "XM_047445405.1",
"protein_id": "XP_047301361.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 270,
"cds_start": 110,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445405.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"transcript": "XM_006710354.4",
"protein_id": "XP_006710417.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 252,
"cds_start": 110,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710354.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2B",
"gene_hgnc_id": 28390,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"transcript": "XM_011540665.2",
"protein_id": "XP_011538967.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 242,
"cds_start": 110,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540665.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
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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": "PRXL2B",
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],
"gene_symbol": "PRXL2B",
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"dbsnp": "rs375491063",
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"hom_count_reference_population": 1,
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"gnomad_exomes_homalt": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05717894434928894,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.245,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001195736.3",
"gene_symbol": "PRXL2B",
"hgnc_id": 28390,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ala7Val"
}
],
"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
}