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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: 18-34019343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34019343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34019343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001384467.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "NM_003787.5",
"protein_id": "NP_003778.2",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 638,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": "ENST00000261592.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003787.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "ENST00000261592.10",
"protein_id": "ENSP00000261592.4",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 638,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": "NM_003787.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261592.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "ENST00000589544.5",
"protein_id": "ENSP00000465450.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 536,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589544.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367Gln",
"transcript": "NM_001384467.1",
"protein_id": "NP_001371396.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 661,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384467.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367Gln",
"transcript": "NM_001384468.1",
"protein_id": "NP_001371397.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 597,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384468.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "NM_001384469.1",
"protein_id": "NP_001371398.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 595,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384469.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "NM_001198546.1",
"protein_id": "NP_001185475.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 574,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198546.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270Gln",
"transcript": "NM_001198547.2",
"protein_id": "NP_001185476.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 564,
"cds_start": 809,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198547.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270Gln",
"transcript": "ENST00000538587.5",
"protein_id": "ENSP00000443472.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 564,
"cds_start": 809,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538587.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000590712.5",
"protein_id": "ENSP00000467629.1",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 558,
"cds_start": 983,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590712.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "NM_001198548.1",
"protein_id": "NP_001185477.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 536,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198548.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294Gln",
"transcript": "ENST00000867151.1",
"protein_id": "ENSP00000537210.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 524,
"cds_start": 881,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867151.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "NM_001353232.1",
"protein_id": "NP_001340161.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 520,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353232.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270Gln",
"transcript": "NM_001353234.2",
"protein_id": "NP_001340163.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 500,
"cds_start": 809,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353234.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "NM_001353235.2",
"protein_id": "NP_001340164.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 483,
"cds_start": 566,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353235.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230Gln",
"transcript": "NM_001384470.1",
"protein_id": "NP_001371399.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 460,
"cds_start": 689,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384470.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "NM_001282527.2",
"protein_id": "NP_001269456.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 419,
"cds_start": 566,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282527.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "NM_001353237.1",
"protein_id": "NP_001340166.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 419,
"cds_start": 566,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353237.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "NM_001384471.1",
"protein_id": "NP_001371400.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 419,
"cds_start": 566,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384471.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Arg93Gln",
"transcript": "NM_001353233.1",
"protein_id": "NP_001340162.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 387,
"cds_start": 278,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353233.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"transcript": "NM_001198549.2",
"protein_id": "NP_001185478.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 353,
"cds_start": 176,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198549.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"transcript": "NM_001384472.1",
"protein_id": "NP_001371401.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 353,
"cds_start": 176,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
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}