← Back to variant description
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: 7-5287900-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5287900&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5287900,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153247.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "NM_153247.4",
"protein_id": "NP_694979.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396872.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153247.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000396872.8",
"protein_id": "ENSP00000380081.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396872.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000297195.8",
"protein_id": "ENSP00000297195.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297195.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000406453.3",
"protein_id": "ENSP00000385845.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 516,
"cds_start": 84,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406453.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000954423.1",
"protein_id": "ENSP00000624482.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 541,
"cds_start": 84,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954423.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "NM_001040661.3",
"protein_id": "NP_001035751.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040661.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000897308.1",
"protein_id": "ENSP00000567367.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897308.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000897309.1",
"protein_id": "ENSP00000567368.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897309.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917413.1",
"protein_id": "ENSP00000587472.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917413.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917414.1",
"protein_id": "ENSP00000587473.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917414.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917418.1",
"protein_id": "ENSP00000587477.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917418.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000954424.1",
"protein_id": "ENSP00000624483.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 530,
"cds_start": 84,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954424.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917415.1",
"protein_id": "ENSP00000587474.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 520,
"cds_start": 84,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917415.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917417.1",
"protein_id": "ENSP00000587476.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 520,
"cds_start": 84,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917417.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "NM_001300847.3",
"protein_id": "NP_001287776.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 516,
"cds_start": 84,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300847.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000954421.1",
"protein_id": "ENSP00000624480.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 516,
"cds_start": 84,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954421.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000954422.1",
"protein_id": "ENSP00000624481.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 505,
"cds_start": 84,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954422.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917419.1",
"protein_id": "ENSP00000587478.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 478,
"cds_start": 84,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917419.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000917416.1",
"protein_id": "ENSP00000587475.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 405,
"cds_start": 84,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917416.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000434816.5",
"protein_id": "ENSP00000406803.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 162,
"cds_start": 84,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434816.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu",
"transcript": "ENST00000444741.5",
"protein_id": "ENSP00000413271.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 150,
"cds_start": 84,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444741.5"
}
],
"gene_symbol": "SLC29A4",
"gene_hgnc_id": 23097,
"dbsnp": "rs140965974",
"frequency_reference_population": 0.000002055211,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205521,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2196960151195526,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.7217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.261,
"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_153247.4",
"gene_symbol": "SLC29A4",
"hgnc_id": 23097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Phe28Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}