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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: 22-19039043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19039043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19039043,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005137.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.1475G>A",
"hgvs_p": "p.Arg492His",
"transcript": "NM_005137.3",
"protein_id": "NP_005128.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 550,
"cds_start": 1475,
"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": "R",
"aa_alt": "H",
"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.1475G>A",
"hgvs_p": "p.Arg492His",
"transcript": "ENST00000263196.12",
"protein_id": "ENSP00000263196.7",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 550,
"cds_start": 1475,
"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.*1046G>A",
"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.*1046G>A",
"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": "R",
"aa_alt": "H",
"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.1607G>A",
"hgvs_p": "p.Arg536His",
"transcript": "ENST00000935670.1",
"protein_id": "ENSP00000605729.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 594,
"cds_start": 1607,
"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": "R",
"aa_alt": "H",
"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.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000907546.1",
"protein_id": "ENSP00000577605.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 591,
"cds_start": 1598,
"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": "R",
"aa_alt": "H",
"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.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "ENST00000955016.1",
"protein_id": "ENSP00000625075.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 590,
"cds_start": 1595,
"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": "R",
"aa_alt": "H",
"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.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "ENST00000907547.1",
"protein_id": "ENSP00000577606.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 558,
"cds_start": 1499,
"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": "R",
"aa_alt": "H",
"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.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000907549.1",
"protein_id": "ENSP00000577608.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 555,
"cds_start": 1490,
"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": "R",
"aa_alt": "H",
"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.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "ENST00000907539.1",
"protein_id": "ENSP00000577598.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 553,
"cds_start": 1484,
"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": "R",
"aa_alt": "H",
"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.1481G>A",
"hgvs_p": "p.Arg494His",
"transcript": "ENST00000955010.1",
"protein_id": "ENSP00000625069.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 552,
"cds_start": 1481,
"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": "R",
"aa_alt": "H",
"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.1472G>A",
"hgvs_p": "p.Arg491His",
"transcript": "ENST00000935666.1",
"protein_id": "ENSP00000605725.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 549,
"cds_start": 1472,
"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": "R",
"aa_alt": "H",
"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.1466G>A",
"hgvs_p": "p.Arg489His",
"transcript": "NM_001184781.2",
"protein_id": "NP_001171710.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 547,
"cds_start": 1466,
"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": "R",
"aa_alt": "H",
"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.1466G>A",
"hgvs_p": "p.Arg489His",
"transcript": "ENST00000907534.1",
"protein_id": "ENSP00000577593.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 547,
"cds_start": 1466,
"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": "R",
"aa_alt": "H",
"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.1466G>A",
"hgvs_p": "p.Arg489His",
"transcript": "ENST00000907548.1",
"protein_id": "ENSP00000577607.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 547,
"cds_start": 1466,
"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": "R",
"aa_alt": "H",
"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.1463G>A",
"hgvs_p": "p.Arg488His",
"transcript": "ENST00000935667.1",
"protein_id": "ENSP00000605726.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 546,
"cds_start": 1463,
"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": "R",
"aa_alt": "H",
"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.1457G>A",
"hgvs_p": "p.Arg486His",
"transcript": "ENST00000955012.1",
"protein_id": "ENSP00000625071.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 544,
"cds_start": 1457,
"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": "R",
"aa_alt": "H",
"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.1454G>A",
"hgvs_p": "p.Arg485His",
"transcript": "ENST00000935669.1",
"protein_id": "ENSP00000605728.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 543,
"cds_start": 1454,
"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": "R",
"aa_alt": "H",
"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.1445G>A",
"hgvs_p": "p.Arg482His",
"transcript": "ENST00000907545.1",
"protein_id": "ENSP00000577604.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 540,
"cds_start": 1445,
"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": "R",
"aa_alt": "H",
"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.1352G>A",
"hgvs_p": "p.Arg451His",
"transcript": "NM_001173533.2",
"protein_id": "NP_001167004.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 509,
"cds_start": 1352,
"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": "R",
"aa_alt": "H",
"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.1352G>A",
"hgvs_p": "p.Arg451His",
"transcript": "ENST00000537045.5",
"protein_id": "ENSP00000440062.1",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 509,
"cds_start": 1352,
"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": "R",
"aa_alt": "H",
"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.1343G>A",
"hgvs_p": "p.Arg448His",
"transcript": "NM_001173534.2",
"protein_id": "NP_001167005.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 506,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1475G>A",
"hgvs_p": "p.Arg492His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}