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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: 17-36496403-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=36496403&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 36496403,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001163735.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2761T>C",
"hgvs_p": "p.Ser921Pro",
"transcript": "NM_001163735.2",
"protein_id": "NP_001157207.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 970,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614623.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163735.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2761T>C",
"hgvs_p": "p.Ser921Pro",
"transcript": "ENST00000614623.5",
"protein_id": "ENSP00000479518.1",
"transcript_support_level": 2,
"aa_start": 921,
"aa_end": null,
"aa_length": 970,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001163735.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614623.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2161T>C",
"hgvs_p": "p.Ser721Pro",
"transcript": "ENST00000610930.4",
"protein_id": "ENSP00000478437.1",
"transcript_support_level": 5,
"aa_start": 721,
"aa_end": null,
"aa_length": 770,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610930.4"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.3578T>C",
"hgvs_p": null,
"transcript": "ENST00000611622.4",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000611622.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "n.277-1203A>G",
"hgvs_p": null,
"transcript": "ENST00000612728.4",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000612728.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Ser960Pro",
"transcript": "ENST00000929267.1",
"protein_id": "ENSP00000599326.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2878,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929267.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2860T>C",
"hgvs_p": "p.Ser954Pro",
"transcript": "ENST00000929272.1",
"protein_id": "ENSP00000599331.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929272.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2854T>C",
"hgvs_p": "p.Ser952Pro",
"transcript": "ENST00000929271.1",
"protein_id": "ENSP00000599330.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929271.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2821T>C",
"hgvs_p": "p.Ser941Pro",
"transcript": "ENST00000929269.1",
"protein_id": "ENSP00000599328.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 990,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929269.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2803T>C",
"hgvs_p": "p.Ser935Pro",
"transcript": "ENST00000929273.1",
"protein_id": "ENSP00000599332.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 984,
"cds_start": 2803,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929273.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2779T>C",
"hgvs_p": "p.Ser927Pro",
"transcript": "ENST00000929268.1",
"protein_id": "ENSP00000599327.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 976,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929268.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2779T>C",
"hgvs_p": "p.Ser927Pro",
"transcript": "ENST00000929274.1",
"protein_id": "ENSP00000599333.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 976,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929274.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2767T>C",
"hgvs_p": "p.Ser923Pro",
"transcript": "ENST00000884132.1",
"protein_id": "ENSP00000554191.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 972,
"cds_start": 2767,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884132.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2767T>C",
"hgvs_p": "p.Ser923Pro",
"transcript": "ENST00000884135.1",
"protein_id": "ENSP00000554194.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 972,
"cds_start": 2767,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884135.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2761T>C",
"hgvs_p": "p.Ser921Pro",
"transcript": "ENST00000969859.1",
"protein_id": "ENSP00000639918.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 970,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969859.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2758T>C",
"hgvs_p": "p.Ser920Pro",
"transcript": "ENST00000929270.1",
"protein_id": "ENSP00000599329.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 969,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929270.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2473T>C",
"hgvs_p": "p.Ser825Pro",
"transcript": "ENST00000884136.1",
"protein_id": "ENSP00000554195.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 874,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884136.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "ENST00000884134.1",
"protein_id": "ENSP00000554193.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 872,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884134.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2347T>C",
"hgvs_p": "p.Ser783Pro",
"transcript": "ENST00000969861.1",
"protein_id": "ENSP00000639920.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 832,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969861.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2161T>C",
"hgvs_p": "p.Ser721Pro",
"transcript": "NM_025109.6",
"protein_id": "NP_079385.2",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 770,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025109.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2053T>C",
"hgvs_p": "p.Ser685Pro",
"transcript": "ENST00000884133.1",
"protein_id": "ENSP00000554192.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 734,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884133.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.1993T>C",
"hgvs_p": "p.Ser665Pro",
"transcript": "ENST00000969860.1",
"protein_id": "ENSP00000639919.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 714,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
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"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
}