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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: 17-36496283-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=36496283&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 36496283,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001163735.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.2881G>A",
"hgvs_p": "p.Val961Met",
"transcript": "NM_001163735.2",
"protein_id": "NP_001157207.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"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": "V",
"aa_alt": "M",
"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.2881G>A",
"hgvs_p": "p.Val961Met",
"transcript": "ENST00000614623.5",
"protein_id": "ENSP00000479518.1",
"transcript_support_level": 2,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"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": "V",
"aa_alt": "M",
"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.2281G>A",
"hgvs_p": "p.Val761Met",
"transcript": "ENST00000610930.4",
"protein_id": "ENSP00000478437.1",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 770,
"cds_start": 2281,
"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.3698G>A",
"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.277-1323C>T",
"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": "V",
"aa_alt": "M",
"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.2998G>A",
"hgvs_p": "p.Val1000Met",
"transcript": "ENST00000929267.1",
"protein_id": "ENSP00000599326.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2998,
"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": "V",
"aa_alt": "M",
"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.2980G>A",
"hgvs_p": "p.Val994Met",
"transcript": "ENST00000929272.1",
"protein_id": "ENSP00000599331.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2980,
"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": "V",
"aa_alt": "M",
"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.2974G>A",
"hgvs_p": "p.Val992Met",
"transcript": "ENST00000929271.1",
"protein_id": "ENSP00000599330.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2974,
"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": "V",
"aa_alt": "M",
"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.2941G>A",
"hgvs_p": "p.Val981Met",
"transcript": "ENST00000929269.1",
"protein_id": "ENSP00000599328.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 990,
"cds_start": 2941,
"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": "V",
"aa_alt": "M",
"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.2923G>A",
"hgvs_p": "p.Val975Met",
"transcript": "ENST00000929273.1",
"protein_id": "ENSP00000599332.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 984,
"cds_start": 2923,
"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": "V",
"aa_alt": "M",
"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.2899G>A",
"hgvs_p": "p.Val967Met",
"transcript": "ENST00000929268.1",
"protein_id": "ENSP00000599327.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 976,
"cds_start": 2899,
"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": "V",
"aa_alt": "M",
"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.2899G>A",
"hgvs_p": "p.Val967Met",
"transcript": "ENST00000929274.1",
"protein_id": "ENSP00000599333.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 976,
"cds_start": 2899,
"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": "V",
"aa_alt": "M",
"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.2887G>A",
"hgvs_p": "p.Val963Met",
"transcript": "ENST00000884132.1",
"protein_id": "ENSP00000554191.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 972,
"cds_start": 2887,
"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": "V",
"aa_alt": "M",
"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.2887G>A",
"hgvs_p": "p.Val963Met",
"transcript": "ENST00000884135.1",
"protein_id": "ENSP00000554194.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 972,
"cds_start": 2887,
"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": "V",
"aa_alt": "M",
"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.2881G>A",
"hgvs_p": "p.Val961Met",
"transcript": "ENST00000969859.1",
"protein_id": "ENSP00000639918.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"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": "V",
"aa_alt": "M",
"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.2878G>A",
"hgvs_p": "p.Val960Met",
"transcript": "ENST00000929270.1",
"protein_id": "ENSP00000599329.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 969,
"cds_start": 2878,
"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": "V",
"aa_alt": "M",
"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.2593G>A",
"hgvs_p": "p.Val865Met",
"transcript": "ENST00000884136.1",
"protein_id": "ENSP00000554195.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 874,
"cds_start": 2593,
"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": "V",
"aa_alt": "M",
"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.2587G>A",
"hgvs_p": "p.Val863Met",
"transcript": "ENST00000884134.1",
"protein_id": "ENSP00000554193.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 872,
"cds_start": 2587,
"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": "V",
"aa_alt": "M",
"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.2467G>A",
"hgvs_p": "p.Val823Met",
"transcript": "ENST00000969861.1",
"protein_id": "ENSP00000639920.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 832,
"cds_start": 2467,
"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": "V",
"aa_alt": "M",
"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.2281G>A",
"hgvs_p": "p.Val761Met",
"transcript": "NM_025109.6",
"protein_id": "NP_079385.2",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 770,
"cds_start": 2281,
"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": "V",
"aa_alt": "M",
"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.2173G>A",
"hgvs_p": "p.Val725Met",
"transcript": "ENST00000884133.1",
"protein_id": "ENSP00000554192.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 734,
"cds_start": 2173,
"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": "V",
"aa_alt": "M",
"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.2113G>A",
"hgvs_p": "p.Val705Met",
"transcript": "ENST00000969860.1",
"protein_id": "ENSP00000639919.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 714,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"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
}