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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: 22-29330461-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29330461&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29330461,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001127.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Met895Val",
"transcript": "NM_001127.4",
"protein_id": "NP_001118.3",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 949,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": "ENST00000357586.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Met895Val",
"transcript": "ENST00000357586.7",
"protein_id": "ENSP00000350199.2",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 949,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": "NM_001127.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357586.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2602A>G",
"hgvs_p": "p.Met868Val",
"transcript": "ENST00000317368.11",
"protein_id": "ENSP00000319361.7",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 919,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2789,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317368.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "n.779A>G",
"hgvs_p": null,
"transcript": "ENST00000482818.1",
"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": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482818.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2872A>G",
"hgvs_p": "p.Met958Val",
"transcript": "ENST00000921604.1",
"protein_id": "ENSP00000591663.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2872,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921604.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000852348.1",
"protein_id": "ENSP00000522407.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 991,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852348.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2737A>G",
"hgvs_p": "p.Met913Val",
"transcript": "ENST00000921609.1",
"protein_id": "ENSP00000591668.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 964,
"cds_start": 2737,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921609.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Met897Val",
"transcript": "ENST00000852346.1",
"protein_id": "ENSP00000522405.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 948,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852346.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Met895Val",
"transcript": "NM_001378562.1",
"protein_id": "NP_001365491.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 946,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378562.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Met895Val",
"transcript": "ENST00000852342.1",
"protein_id": "ENSP00000522401.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 946,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852342.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Met895Val",
"transcript": "ENST00000852350.1",
"protein_id": "ENSP00000522409.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 946,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852350.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "NM_001378563.1",
"protein_id": "NP_001365492.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 942,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378563.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "NM_145730.3",
"protein_id": "NP_663782.2",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145730.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000405198.6",
"protein_id": "ENSP00000384194.2",
"transcript_support_level": 5,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405198.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000432560.6",
"protein_id": "ENSP00000400065.2",
"transcript_support_level": 5,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432560.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000852344.1",
"protein_id": "ENSP00000522403.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852344.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000852347.1",
"protein_id": "ENSP00000522406.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 3970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852347.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Met888Val",
"transcript": "ENST00000852351.1",
"protein_id": "ENSP00000522410.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 939,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852351.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2659A>G",
"hgvs_p": "p.Met887Val",
"transcript": "ENST00000852349.1",
"protein_id": "ENSP00000522408.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 938,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852349.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2656A>G",
"hgvs_p": "p.Met886Val",
"transcript": "ENST00000921603.1",
"protein_id": "ENSP00000591662.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 937,
"cds_start": 2656,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921603.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2650A>G",
"hgvs_p": "p.Met884Val",
"transcript": "ENST00000921606.1",
"protein_id": "ENSP00000591665.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 935,
"cds_start": 2650,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921606.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1B1",
"gene_hgnc_id": 554,
"hgvs_c": "c.2650A>G",
"hgvs_p": "p.Met884Val",
"transcript": "ENST00000952519.1",
"protein_id": "ENSP00000622578.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 935,
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],
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}