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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: 20-1452599-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1452599&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1452599,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001206736.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "NM_016143.5",
"protein_id": "NP_057227.2",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 370,
"cds_start": 679,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": "ENST00000216879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016143.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "ENST00000216879.9",
"protein_id": "ENSP00000216879.4",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 370,
"cds_start": 679,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": "NM_016143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216879.9"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "ENST00000926113.1",
"protein_id": "ENSP00000596172.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 389,
"cds_start": 679,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926113.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.His239Asp",
"transcript": "ENST00000855884.1",
"protein_id": "ENSP00000525943.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 382,
"cds_start": 715,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855884.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "ENST00000855889.1",
"protein_id": "ENSP00000525948.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 382,
"cds_start": 679,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855889.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.His229Asp",
"transcript": "NM_001206736.2",
"protein_id": "NP_001193665.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 372,
"cds_start": 685,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206736.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.His229Asp",
"transcript": "ENST00000476071.5",
"protein_id": "ENSP00000418529.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 372,
"cds_start": 685,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476071.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "ENST00000855888.1",
"protein_id": "ENSP00000525947.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 368,
"cds_start": 679,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855888.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.661C>G",
"hgvs_p": "p.His221Asp",
"transcript": "ENST00000855885.1",
"protein_id": "ENSP00000525944.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 364,
"cds_start": 661,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855885.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.625C>G",
"hgvs_p": "p.His209Asp",
"transcript": "ENST00000855887.1",
"protein_id": "ENSP00000525946.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 352,
"cds_start": 625,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855887.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.His196Asp",
"transcript": "NM_018839.5",
"protein_id": "NP_061327.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 339,
"cds_start": 586,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018839.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.His196Asp",
"transcript": "ENST00000353088.6",
"protein_id": "ENSP00000338643.2",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 339,
"cds_start": 586,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353088.6"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.His227Asp",
"transcript": "ENST00000965405.1",
"protein_id": "ENSP00000635464.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 315,
"cds_start": 679,
"cds_end": null,
"cds_length": 948,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965405.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.His232Asp",
"transcript": "XM_011529300.3",
"protein_id": "XP_011527602.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 375,
"cds_start": 694,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529300.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.688C>G",
"hgvs_p": "p.His230Asp",
"transcript": "XM_011529301.3",
"protein_id": "XP_011527603.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 373,
"cds_start": 688,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529301.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.535C>G",
"hgvs_p": "p.His179Asp",
"transcript": "XM_011529302.3",
"protein_id": "XP_011527604.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 322,
"cds_start": 535,
"cds_end": null,
"cds_length": 969,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529302.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.His178Asp",
"transcript": "XM_047440302.1",
"protein_id": "XP_047296258.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440302.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.529C>G",
"hgvs_p": "p.His177Asp",
"transcript": "XM_017027956.2",
"protein_id": "XP_016883445.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 320,
"cds_start": 529,
"cds_end": null,
"cds_length": 963,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027956.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.526C>G",
"hgvs_p": "p.His176Asp",
"transcript": "XM_047440303.1",
"protein_id": "XP_047296259.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 319,
"cds_start": 526,
"cds_end": null,
"cds_length": 960,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440303.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.424C>G",
"hgvs_p": "p.His142Asp",
"transcript": "XM_017027958.3",
"protein_id": "XP_016883447.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 285,
"cds_start": 424,
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"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027958.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.His232Asp",
"transcript": "XM_047440304.1",
"protein_id": "XP_047296260.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 279,
"cds_start": 694,
"cds_end": null,
"cds_length": 840,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440304.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.352C>G",
"hgvs_p": "p.His118Asp",
"transcript": "XM_006723593.4",
"protein_id": "XP_006723656.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 261,
"cds_start": 352,
"cds_end": null,
"cds_length": 786,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2534,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}