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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: 7-872548-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=872548&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 872548,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000401592.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2227A>G",
"hgvs_p": "p.Met743Val",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 785,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2227A>G",
"hgvs_p": "p.Met743Val",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 785,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Met668Val",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 710,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2336A>G",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Met881Val",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 923,
"cds_start": 2641,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2620A>G",
"hgvs_p": "p.Met874Val",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 916,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2617A>G",
"hgvs_p": "p.Met873Val",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 915,
"cds_start": 2617,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Met846Val",
"transcript": "NM_001367692.1",
"protein_id": "NP_001354621.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 888,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2533A>G",
"hgvs_p": "p.Met845Val",
"transcript": "NM_001367677.1",
"protein_id": "NP_001354606.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 887,
"cds_start": 2533,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2518A>G",
"hgvs_p": "p.Met840Val",
"transcript": "NM_001367690.1",
"protein_id": "NP_001354619.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 882,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2509A>G",
"hgvs_p": "p.Met837Val",
"transcript": "NM_001367641.1",
"protein_id": "NP_001354570.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 879,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2506A>G",
"hgvs_p": "p.Met836Val",
"transcript": "NM_001367698.1",
"protein_id": "NP_001354627.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 878,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2470A>G",
"hgvs_p": "p.Met824Val",
"transcript": "NM_001367666.1",
"protein_id": "NP_001354595.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 866,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2467A>G",
"hgvs_p": "p.Met823Val",
"transcript": "NM_001367691.1",
"protein_id": "NP_001354620.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 865,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2437A>G",
"hgvs_p": "p.Met813Val",
"transcript": "NM_001367655.1",
"protein_id": "NP_001354584.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 855,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2437A>G",
"hgvs_p": "p.Met813Val",
"transcript": "NM_001367700.1",
"protein_id": "NP_001354629.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 855,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Met809Val",
"transcript": "NM_001367674.1",
"protein_id": "NP_001354603.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 851,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Met808Val",
"transcript": "NM_001367697.1",
"protein_id": "NP_001354626.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 850,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Met807Val",
"transcript": "NM_001367643.1",
"protein_id": "NP_001354572.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 849,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2410A>G",
"hgvs_p": "p.Met804Val",
"transcript": "NM_001367676.1",
"protein_id": "NP_001354605.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 846,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2407A>G",
"hgvs_p": "p.Met803Val",
"transcript": "NM_001367640.1",
"protein_id": "NP_001354569.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 845,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Met796Val",
"transcript": "NM_001367684.1",
"protein_id": "NP_001354613.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 838,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
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}
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}