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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: 2-9505239-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9505239&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9505239,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003183.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Pro491Ala",
"transcript": "NM_003183.6",
"protein_id": "NP_003174.3",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 824,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310823.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003183.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Pro491Ala",
"transcript": "ENST00000310823.8",
"protein_id": "ENSP00000309968.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 824,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003183.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310823.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1549C>G",
"hgvs_p": "p.Pro517Ala",
"transcript": "ENST00000926352.1",
"protein_id": "ENSP00000596411.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 850,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926352.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1501C>G",
"hgvs_p": "p.Pro501Ala",
"transcript": "ENST00000945284.1",
"protein_id": "ENSP00000615343.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 834,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945284.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Pro491Ala",
"transcript": "ENST00000945282.1",
"protein_id": "ENSP00000615341.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 822,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945282.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1381C>G",
"hgvs_p": "p.Pro461Ala",
"transcript": "ENST00000699318.1",
"protein_id": "ENSP00000514297.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 794,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699318.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Pro440Ala",
"transcript": "ENST00000867642.1",
"protein_id": "ENSP00000537701.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 773,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867642.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Pro403Ala",
"transcript": "ENST00000945283.1",
"protein_id": "ENSP00000615342.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 736,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945283.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Pro271Ala",
"transcript": "NM_001382777.1",
"protein_id": "NP_001369706.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 604,
"cds_start": 811,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382777.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Pro491Ala",
"transcript": "ENST00000699324.1",
"protein_id": "ENSP00000514300.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 577,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699324.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Pro491Ala",
"transcript": "ENST00000699325.1",
"protein_id": "ENSP00000514301.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 551,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699325.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Pro192Ala",
"transcript": "NM_001382778.1",
"protein_id": "NP_001369707.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 525,
"cds_start": 574,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382778.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Pro460Ala",
"transcript": "XM_047445610.1",
"protein_id": "XP_047301566.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 793,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445610.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Pro192Ala",
"transcript": "XM_047445611.1",
"protein_id": "XP_047301567.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 525,
"cds_start": 574,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445611.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Pro192Ala",
"transcript": "XM_047445612.1",
"protein_id": "XP_047301568.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 525,
"cds_start": 574,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*931C>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
"transcript_support_level": null,
"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": "ENST00000647610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1001C>G",
"hgvs_p": null,
"transcript": "ENST00000647979.1",
"protein_id": "ENSP00000497542.1",
"transcript_support_level": null,
"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": "ENST00000647979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1698C>G",
"hgvs_p": null,
"transcript": "ENST00000648548.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000648548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1541C>G",
"hgvs_p": null,
"transcript": "ENST00000648857.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000648857.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.3582C>G",
"hgvs_p": null,
"transcript": "ENST00000649068.2",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000649068.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1232C>G",
"hgvs_p": null,
"transcript": "ENST00000649227.1",
"protein_id": "ENSP00000497830.1",
"transcript_support_level": null,
"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": "ENST00000649227.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1281C>G",
"hgvs_p": null,
"transcript": "ENST00000649686.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000649686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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],
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}