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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: 1-57010787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=57010787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 57010787,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021080.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_001365792.1",
"protein_id": "NP_001352721.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371236.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365792.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "ENST00000371236.7",
"protein_id": "ENSP00000360280.1",
"transcript_support_level": 5,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365792.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371236.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Asp524Asn",
"transcript": "ENST00000420954.6",
"protein_id": "ENSP00000395296.2",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 553,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420954.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Asp559Asn",
"transcript": "ENST00000371231.5",
"protein_id": "ENSP00000360275.1",
"transcript_support_level": 5,
"aa_start": 559,
"aa_end": null,
"aa_length": 588,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371231.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Asp557Asn",
"transcript": "ENST00000959331.1",
"protein_id": "ENSP00000629390.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 586,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959331.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Asp543Asn",
"transcript": "ENST00000853968.1",
"protein_id": "ENSP00000524027.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 572,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853968.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Asp543Asn",
"transcript": "ENST00000959326.1",
"protein_id": "ENSP00000629385.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 572,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959326.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Asp543Asn",
"transcript": "ENST00000959328.1",
"protein_id": "ENSP00000629387.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 572,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959328.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Asp543Asn",
"transcript": "ENST00000959332.1",
"protein_id": "ENSP00000629391.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 572,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959332.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "ENST00000929475.1",
"protein_id": "ENSP00000599534.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 570,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929475.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_001353983.2",
"protein_id": "NP_001340912.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353983.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_001353985.2",
"protein_id": "NP_001340914.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353985.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_001365793.1",
"protein_id": "NP_001352722.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365793.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_001379462.1",
"protein_id": "NP_001366391.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379462.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "NM_021080.5",
"protein_id": "NP_066566.3",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021080.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "ENST00000414851.6",
"protein_id": "ENSP00000387581.3",
"transcript_support_level": 5,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414851.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "ENST00000853969.1",
"protein_id": "ENSP00000524028.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853969.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "ENST00000929476.1",
"protein_id": "ENSP00000599535.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929476.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Asp524Asn",
"transcript": "NM_001353986.2",
"protein_id": "NP_001340915.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 553,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353986.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Asp524Asn",
"transcript": "NM_001379461.1",
"protein_id": "NP_001366390.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 553,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379461.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Asp407Asn",
"transcript": "ENST00000959329.1",
"protein_id": "ENSP00000629388.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 436,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959329.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB1",
"gene_hgnc_id": 2661,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Asp376Asn",
"transcript": "ENST00000959327.1",
"protein_id": "ENSP00000629386.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 405,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}