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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: 6-44232834-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44232834&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44232834,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001304462.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "NM_001372327.1",
"protein_id": "NP_001359256.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371755.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372327.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000371755.9",
"protein_id": "ENSP00000360820.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372327.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371755.9"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000371708.1",
"protein_id": "ENSP00000360773.1",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371708.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000393844.7",
"protein_id": "ENSP00000377427.1",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393844.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ser442Gly",
"transcript": "NM_001304462.2",
"protein_id": "NP_001291391.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 535,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304462.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1165A>G",
"hgvs_p": "p.Ser389Gly",
"transcript": "NM_001304465.2",
"protein_id": "NP_001291394.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304465.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Ser388Gly",
"transcript": "NM_001304466.2",
"protein_id": "NP_001291395.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 481,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304466.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000892054.1",
"protein_id": "ENSP00000562113.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 471,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892054.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000967782.1",
"protein_id": "ENSP00000637841.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 471,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967782.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000967810.1",
"protein_id": "ENSP00000637869.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 471,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967810.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000967781.1",
"protein_id": "ENSP00000637840.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 464,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967781.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Ser369Gly",
"transcript": "ENST00000916887.1",
"protein_id": "ENSP00000586946.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 462,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916887.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Ser369Gly",
"transcript": "ENST00000967783.1",
"protein_id": "ENSP00000637842.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 462,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967783.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Ser369Gly",
"transcript": "ENST00000967787.1",
"protein_id": "ENSP00000637846.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 462,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967787.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"transcript": "ENST00000892024.1",
"protein_id": "ENSP00000562083.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 461,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892024.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "NM_001078175.3",
"protein_id": "NP_001071643.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001078175.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "NM_001078177.2",
"protein_id": "NP_001071645.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001078177.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000371713.6",
"protein_id": "ENSP00000360778.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371713.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000371724.6",
"protein_id": "ENSP00000360789.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371724.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000651428.1",
"protein_id": "ENSP00000498610.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651428.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000652453.1",
"protein_id": "ENSP00000499107.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652453.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ser363Gly",
"transcript": "ENST00000652680.1",
"protein_id": "ENSP00000498747.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1087,
"cds_end": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "n.543A>G",
"hgvs_p": null,
"transcript": "ENST00000646878.1",
"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": "retained_intron",
"feature": "ENST00000646878.1"
}
],
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"dbsnp": "rs764347727",
"frequency_reference_population": 0.000044019926,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000438158,
"gnomad_genomes_af": 0.0000459782,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04347825050354004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.0523,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.313,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001304462.2",
"gene_symbol": "SLC29A1",
"hgnc_id": 11003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ser442Gly"
}
],
"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
}