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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: 1-61404120-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61404120&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61404120,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001145512.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "NM_001134673.4",
"protein_id": "NP_001128145.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403491.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134673.4"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000403491.8",
"protein_id": "ENSP00000384523.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134673.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403491.8"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000371187.7",
"protein_id": "ENSP00000360229.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 498,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371187.7"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1229delC",
"hgvs_p": "p.Pro410fs",
"transcript": "NM_001145512.2",
"protein_id": "NP_001138984.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 554,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145512.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1229delC",
"hgvs_p": "p.Pro410fs",
"transcript": "ENST00000371189.8",
"protein_id": "ENSP00000360231.3",
"transcript_support_level": 2,
"aa_start": 410,
"aa_end": null,
"aa_length": 554,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371189.8"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1217delC",
"hgvs_p": "p.Pro406fs",
"transcript": "ENST00000699987.1",
"protein_id": "ENSP00000514740.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 550,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699987.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1163delC",
"hgvs_p": "p.Pro388fs",
"transcript": "ENST00000371191.5",
"protein_id": "ENSP00000360233.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 532,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371191.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1148delC",
"hgvs_p": "p.Pro383fs",
"transcript": "ENST00000872258.1",
"protein_id": "ENSP00000542317.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 527,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872258.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1148delC",
"hgvs_p": "p.Pro383fs",
"transcript": "ENST00000872259.1",
"protein_id": "ENSP00000542318.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 527,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872259.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1148delC",
"hgvs_p": "p.Pro383fs",
"transcript": "ENST00000482020.2",
"protein_id": "ENSP00000474806.2",
"transcript_support_level": 3,
"aa_start": 383,
"aa_end": null,
"aa_length": 511,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482020.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000699965.1",
"protein_id": "ENSP00000514721.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 510,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699965.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000872256.1",
"protein_id": "ENSP00000542315.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872256.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000872257.1",
"protein_id": "ENSP00000542316.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872257.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000872260.1",
"protein_id": "ENSP00000542319.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872260.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000967055.1",
"protein_id": "ENSP00000637114.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 509,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967055.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000664149.1",
"protein_id": "ENSP00000499651.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 508,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664149.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "ENST00000920881.1",
"protein_id": "ENSP00000590940.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 504,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920881.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1070delC",
"hgvs_p": "p.Pro357fs",
"transcript": "NM_001145511.2",
"protein_id": "NP_001138983.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 501,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145511.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1070delC",
"hgvs_p": "p.Pro357fs",
"transcript": "ENST00000407417.7",
"protein_id": "ENSP00000384680.2",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 501,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407417.7"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1094delC",
"hgvs_p": "p.Pro365fs",
"transcript": "NM_005595.5",
"protein_id": "NP_005586.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 498,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005595.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1070delC",
"hgvs_p": "p.Pro357fs",
"transcript": "ENST00000699964.1",
"protein_id": "ENSP00000514720.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 490,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699964.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1028delC",
"hgvs_p": "p.Pro343fs",
"transcript": "ENST00000371185.6",
"protein_id": "ENSP00000360227.1",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 487,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371185.6"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"phenotype_combined": "Brain malformations with or without urinary tract defects",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}