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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: 22-19038993-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19038993&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19038993,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005137.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1525G>T",
"hgvs_p": "p.Asp509Tyr",
"transcript": "NM_005137.3",
"protein_id": "NP_005128.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 550,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263196.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005137.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1525G>T",
"hgvs_p": "p.Asp509Tyr",
"transcript": "ENST00000263196.12",
"protein_id": "ENSP00000263196.7",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 550,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005137.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263196.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.*1096G>T",
"hgvs_p": null,
"transcript": "ENST00000389262.8",
"protein_id": "ENSP00000373914.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000389262.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.*1096G>T",
"hgvs_p": null,
"transcript": "ENST00000389262.8",
"protein_id": "ENSP00000373914.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000389262.8"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1657G>T",
"hgvs_p": "p.Asp553Tyr",
"transcript": "ENST00000935670.1",
"protein_id": "ENSP00000605729.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 594,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935670.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1648G>T",
"hgvs_p": "p.Asp550Tyr",
"transcript": "ENST00000907546.1",
"protein_id": "ENSP00000577605.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 591,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907546.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1645G>T",
"hgvs_p": "p.Asp549Tyr",
"transcript": "ENST00000955016.1",
"protein_id": "ENSP00000625075.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 590,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955016.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1549G>T",
"hgvs_p": "p.Asp517Tyr",
"transcript": "ENST00000907547.1",
"protein_id": "ENSP00000577606.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 558,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907547.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1540G>T",
"hgvs_p": "p.Asp514Tyr",
"transcript": "ENST00000907549.1",
"protein_id": "ENSP00000577608.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 555,
"cds_start": 1540,
"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": "ENST00000907549.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1534G>T",
"hgvs_p": "p.Asp512Tyr",
"transcript": "ENST00000907539.1",
"protein_id": "ENSP00000577598.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 553,
"cds_start": 1534,
"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": "ENST00000907539.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1531G>T",
"hgvs_p": "p.Asp511Tyr",
"transcript": "ENST00000955010.1",
"protein_id": "ENSP00000625069.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 552,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955010.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Asp508Tyr",
"transcript": "ENST00000935666.1",
"protein_id": "ENSP00000605725.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 549,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935666.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1516G>T",
"hgvs_p": "p.Asp506Tyr",
"transcript": "NM_001184781.2",
"protein_id": "NP_001171710.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 547,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184781.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1516G>T",
"hgvs_p": "p.Asp506Tyr",
"transcript": "ENST00000907534.1",
"protein_id": "ENSP00000577593.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 547,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907534.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1516G>T",
"hgvs_p": "p.Asp506Tyr",
"transcript": "ENST00000907548.1",
"protein_id": "ENSP00000577607.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 547,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907548.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Asp505Tyr",
"transcript": "ENST00000935667.1",
"protein_id": "ENSP00000605726.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 546,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935667.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Asp503Tyr",
"transcript": "ENST00000955012.1",
"protein_id": "ENSP00000625071.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 544,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955012.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1504G>T",
"hgvs_p": "p.Asp502Tyr",
"transcript": "ENST00000935669.1",
"protein_id": "ENSP00000605728.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 543,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935669.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1495G>T",
"hgvs_p": "p.Asp499Tyr",
"transcript": "ENST00000907545.1",
"protein_id": "ENSP00000577604.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 540,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907545.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1402G>T",
"hgvs_p": "p.Asp468Tyr",
"transcript": "NM_001173533.2",
"protein_id": "NP_001167004.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173533.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1402G>T",
"hgvs_p": "p.Asp468Tyr",
"transcript": "ENST00000537045.5",
"protein_id": "ENSP00000440062.1",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537045.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1393G>T",
"hgvs_p": "p.Asp465Tyr",
"transcript": "NM_001173534.2",
"protein_id": "NP_001167005.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 506,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"verdict": "Likely_benign",
"transcript": "NM_005137.3",
"gene_symbol": "DGCR2",
"hgnc_id": 2845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1525G>T",
"hgvs_p": "p.Asp509Tyr"
}
],
"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
}