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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: 22-19038963-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19038963&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19038963,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005137.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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.1555G>C",
"hgvs_p": "p.Val519Leu",
"transcript": "NM_005137.3",
"protein_id": "NP_005128.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 550,
"cds_start": 1555,
"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": "V",
"aa_alt": "L",
"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.1555G>C",
"hgvs_p": "p.Val519Leu",
"transcript": "ENST00000263196.12",
"protein_id": "ENSP00000263196.7",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 550,
"cds_start": 1555,
"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.*1126G>C",
"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.*1126G>C",
"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": "V",
"aa_alt": "L",
"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.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "ENST00000935670.1",
"protein_id": "ENSP00000605729.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 594,
"cds_start": 1687,
"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": "V",
"aa_alt": "L",
"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.1678G>C",
"hgvs_p": "p.Val560Leu",
"transcript": "ENST00000907546.1",
"protein_id": "ENSP00000577605.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 591,
"cds_start": 1678,
"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": "V",
"aa_alt": "L",
"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.1675G>C",
"hgvs_p": "p.Val559Leu",
"transcript": "ENST00000955016.1",
"protein_id": "ENSP00000625075.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 590,
"cds_start": 1675,
"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": "V",
"aa_alt": "L",
"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.1579G>C",
"hgvs_p": "p.Val527Leu",
"transcript": "ENST00000907547.1",
"protein_id": "ENSP00000577606.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 558,
"cds_start": 1579,
"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": "V",
"aa_alt": "L",
"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.1570G>C",
"hgvs_p": "p.Val524Leu",
"transcript": "ENST00000907549.1",
"protein_id": "ENSP00000577608.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 555,
"cds_start": 1570,
"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": "V",
"aa_alt": "L",
"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.1564G>C",
"hgvs_p": "p.Val522Leu",
"transcript": "ENST00000907539.1",
"protein_id": "ENSP00000577598.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 553,
"cds_start": 1564,
"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": "V",
"aa_alt": "L",
"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.1561G>C",
"hgvs_p": "p.Val521Leu",
"transcript": "ENST00000955010.1",
"protein_id": "ENSP00000625069.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 552,
"cds_start": 1561,
"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": "V",
"aa_alt": "L",
"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.1552G>C",
"hgvs_p": "p.Val518Leu",
"transcript": "ENST00000935666.1",
"protein_id": "ENSP00000605725.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 549,
"cds_start": 1552,
"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": "V",
"aa_alt": "L",
"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.1546G>C",
"hgvs_p": "p.Val516Leu",
"transcript": "NM_001184781.2",
"protein_id": "NP_001171710.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1546,
"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": "V",
"aa_alt": "L",
"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.1546G>C",
"hgvs_p": "p.Val516Leu",
"transcript": "ENST00000907534.1",
"protein_id": "ENSP00000577593.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1546,
"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": "V",
"aa_alt": "L",
"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.1546G>C",
"hgvs_p": "p.Val516Leu",
"transcript": "ENST00000907548.1",
"protein_id": "ENSP00000577607.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1546,
"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": "V",
"aa_alt": "L",
"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.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "ENST00000935667.1",
"protein_id": "ENSP00000605726.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 546,
"cds_start": 1543,
"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": "V",
"aa_alt": "L",
"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.1537G>C",
"hgvs_p": "p.Val513Leu",
"transcript": "ENST00000955012.1",
"protein_id": "ENSP00000625071.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 544,
"cds_start": 1537,
"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": "V",
"aa_alt": "L",
"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>C",
"hgvs_p": "p.Val512Leu",
"transcript": "ENST00000935669.1",
"protein_id": "ENSP00000605728.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 543,
"cds_start": 1534,
"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": "V",
"aa_alt": "L",
"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>C",
"hgvs_p": "p.Val509Leu",
"transcript": "ENST00000907545.1",
"protein_id": "ENSP00000577604.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 540,
"cds_start": 1525,
"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": "V",
"aa_alt": "L",
"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.1432G>C",
"hgvs_p": "p.Val478Leu",
"transcript": "NM_001173533.2",
"protein_id": "NP_001167004.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 509,
"cds_start": 1432,
"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": "V",
"aa_alt": "L",
"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.1432G>C",
"hgvs_p": "p.Val478Leu",
"transcript": "ENST00000537045.5",
"protein_id": "ENSP00000440062.1",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 509,
"cds_start": 1432,
"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": "V",
"aa_alt": "L",
"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.1423G>C",
"hgvs_p": "p.Val475Leu",
"transcript": "NM_001173534.2",
"protein_id": "NP_001167005.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 506,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"verdict": "Uncertain_significance",
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"gene_symbol": "DGCR2",
"hgnc_id": 2845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Val519Leu"
}
],
"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
}