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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: 17-29969261-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29969261&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 29969261,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198529.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "NM_198529.4",
"protein_id": "NP_940931.3",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1503,
"cds_start": 661,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394835.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198529.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "ENST00000394835.8",
"protein_id": "ENSP00000378312.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 1503,
"cds_start": 661,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198529.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394835.8"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Asn19His",
"transcript": "ENST00000588978.1",
"protein_id": "ENSP00000465109.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 773,
"cds_start": 55,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.661A>C",
"hgvs_p": null,
"transcript": "ENST00000440741.7",
"protein_id": "ENSP00000393095.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000440741.7"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.79A>C",
"hgvs_p": "p.Asn27His",
"transcript": "ENST00000419434.5",
"protein_id": "ENSP00000417009.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 1185,
"cds_start": 79,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419434.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Asn165His",
"transcript": "NM_001145053.2",
"protein_id": "NP_001138525.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 856,
"cds_start": 493,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145053.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Asn165His",
"transcript": "ENST00000536908.6",
"protein_id": "ENSP00000440619.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 856,
"cds_start": 493,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536908.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_011524759.2",
"protein_id": "XP_011523061.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1505,
"cds_start": 661,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524759.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_011524763.3",
"protein_id": "XP_011523065.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1458,
"cds_start": 661,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524763.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Asn165His",
"transcript": "XM_024450742.1",
"protein_id": "XP_024306510.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1449,
"cds_start": 493,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450742.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Asn165His",
"transcript": "XM_024450743.1",
"protein_id": "XP_024306511.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1447,
"cds_start": 493,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450743.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_011524765.2",
"protein_id": "XP_011523067.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1234,
"cds_start": 661,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524765.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_047435946.1",
"protein_id": "XP_047291902.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1231,
"cds_start": 661,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435946.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Asn165His",
"transcript": "XM_047435947.1",
"protein_id": "XP_047291903.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1173,
"cds_start": 493,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435947.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_011524768.3",
"protein_id": "XP_011523070.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1016,
"cds_start": 661,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524768.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_047435949.1",
"protein_id": "XP_047291905.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 914,
"cds_start": 661,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435949.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His",
"transcript": "XM_017024592.2",
"protein_id": "XP_016880081.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 912,
"cds_start": 661,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024592.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.91+402A>C",
"hgvs_p": null,
"transcript": "ENST00000638539.1",
"protein_id": "ENSP00000492792.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.-10-23904A>C",
"hgvs_p": null,
"transcript": "XM_047435945.1",
"protein_id": "XP_047291901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": null,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.824A>C",
"hgvs_p": null,
"transcript": "NR_026738.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.91+402A>C",
"hgvs_p": null,
"transcript": "ENST00000423598.6",
"protein_id": "ENSP00000392831.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000423598.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.262-23904A>C",
"hgvs_p": null,
"transcript": "ENST00000534836.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000534836.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.*183A>C",
"hgvs_p": null,
"transcript": "ENST00000448319.5",
"protein_id": "ENSP00000400023.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448319.5"
}
],
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"dbsnp": "rs375454751",
"frequency_reference_population": 0.000008675972,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000478965,
"gnomad_genomes_af": 0.0000460018,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10921519994735718,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.812,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198529.4",
"gene_symbol": "EFCAB5",
"hgnc_id": 24801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Asn221His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}