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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: 1-5874521-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=5874521&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 5874521,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000378156.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "NM_015102.5",
"protein_id": "NP_055917.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": "ENST00000378156.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "ENST00000378156.9",
"protein_id": "ENSP00000367398.4",
"transcript_support_level": 1,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": "NM_015102.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*2082G>A",
"hgvs_p": null,
"transcript": "ENST00000378169.7",
"protein_id": "ENSP00000367411.3",
"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": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*992G>A",
"hgvs_p": null,
"transcript": "ENST00000489180.6",
"protein_id": "ENSP00000423747.1",
"transcript_support_level": 2,
"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": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*2082G>A",
"hgvs_p": null,
"transcript": "ENST00000378169.7",
"protein_id": "ENSP00000367411.3",
"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": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*992G>A",
"hgvs_p": null,
"transcript": "ENST00000489180.6",
"protein_id": "ENSP00000423747.1",
"transcript_support_level": 2,
"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": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.1645G>A",
"hgvs_p": "p.Val549Ile",
"transcript": "NM_001291594.2",
"protein_id": "NP_001278523.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 914,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "NM_001291593.2",
"protein_id": "NP_001278522.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 913,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 3091,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_006710563.4",
"protein_id": "XP_006710626.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_011541216.3",
"protein_id": "XP_011539518.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 5493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_011541217.3",
"protein_id": "XP_011539519.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3803,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_047417535.1",
"protein_id": "XP_047273491.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_047417537.1",
"protein_id": "XP_047273493.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_047417538.1",
"protein_id": "XP_047273494.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Val1061Ile",
"transcript": "XM_047417546.1",
"protein_id": "XP_047273502.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 5255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Val1060Ile",
"transcript": "XM_011541213.2",
"protein_id": "XP_011539515.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3178,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3139G>A",
"hgvs_p": "p.Val1047Ile",
"transcript": "XM_011541214.2",
"protein_id": "XP_011539516.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3139,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "XM_017000996.2",
"protein_id": "XP_016856485.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3136,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.3070G>A",
"hgvs_p": "p.Val1024Ile",
"transcript": "XM_011541215.2",
"protein_id": "XP_011539517.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1389,
"cds_start": 3070,
"cds_end": null,
"cds_length": 4170,
"cdna_start": 3108,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Val947Ile",
"transcript": "XM_047417555.1",
"protein_id": "XP_047273511.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2877,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Val946Ile",
"transcript": "XM_047417565.1",
"protein_id": "XP_047273521.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1311,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 2874,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Val885Ile",
"transcript": "XM_017000999.2",
"protein_id": "XP_016856488.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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}
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}