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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: 7-873254-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=873254&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 873254,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000401592.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2281C>A",
"hgvs_p": "p.Arg761Arg",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 785,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2281C>A",
"hgvs_p": "p.Arg761Arg",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 785,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2056C>A",
"hgvs_p": "p.Arg686Arg",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 710,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2056,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2390C>A",
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2288C>A",
"hgvs_p": "p.Ser763*",
"transcript": "NM_001367702.1",
"protein_id": "NP_001354631.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 766,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2695C>A",
"hgvs_p": "p.Arg899Arg",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 923,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2674C>A",
"hgvs_p": "p.Arg892Arg",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 916,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2671C>A",
"hgvs_p": "p.Arg891Arg",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 915,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2590C>A",
"hgvs_p": "p.Arg864Arg",
"transcript": "NM_001367692.1",
"protein_id": "NP_001354621.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 888,
"cds_start": 2590,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2587C>A",
"hgvs_p": "p.Arg863Arg",
"transcript": "NM_001367677.1",
"protein_id": "NP_001354606.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 887,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2581C>A",
"hgvs_p": "p.Arg861Arg",
"transcript": "NM_001367703.1",
"protein_id": "NP_001354632.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 885,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2578C>A",
"hgvs_p": "p.Arg860Arg",
"transcript": "NM_001367699.1",
"protein_id": "NP_001354628.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 884,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2572C>A",
"hgvs_p": "p.Arg858Arg",
"transcript": "NM_001367690.1",
"protein_id": "NP_001354619.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 882,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2563C>A",
"hgvs_p": "p.Arg855Arg",
"transcript": "NM_001367641.1",
"protein_id": "NP_001354570.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 879,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2560C>A",
"hgvs_p": "p.Arg854Arg",
"transcript": "NM_001367698.1",
"protein_id": "NP_001354627.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 878,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2611,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2524C>A",
"hgvs_p": "p.Arg842Arg",
"transcript": "NM_001367666.1",
"protein_id": "NP_001354595.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 866,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2521C>A",
"hgvs_p": "p.Arg841Arg",
"transcript": "NM_001367691.1",
"protein_id": "NP_001354620.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 865,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2491C>A",
"hgvs_p": "p.Arg831Arg",
"transcript": "NM_001367655.1",
"protein_id": "NP_001354584.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 855,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2491C>A",
"hgvs_p": "p.Arg831Arg",
"transcript": "NM_001367700.1",
"protein_id": "NP_001354629.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 855,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2479C>A",
"hgvs_p": "p.Arg827Arg",
"transcript": "NM_001367674.1",
"protein_id": "NP_001354603.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 851,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2476C>A",
"hgvs_p": "p.Arg826Arg",
"transcript": "NM_001367697.1",
"protein_id": "NP_001354626.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 850,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2473C>A",
"hgvs_p": "p.Arg825Arg",
"transcript": "NM_001367643.1",
"protein_id": "NP_001354572.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 849,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"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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}