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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: 1-205794980-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205794980&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205794980,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173854.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "NM_173854.6",
"protein_id": "NP_776253.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173854.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000367137.4",
"protein_id": "ENSP00000356105.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173854.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367137.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Val432Leu",
"transcript": "ENST00000911130.1",
"protein_id": "ENSP00000581189.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 529,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911130.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Val428Leu",
"transcript": "ENST00000948596.1",
"protein_id": "ENSP00000618655.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 525,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948596.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1276G>T",
"hgvs_p": "p.Val426Leu",
"transcript": "ENST00000911129.1",
"protein_id": "ENSP00000581188.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 523,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911129.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000911126.1",
"protein_id": "ENSP00000581185.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911126.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000911127.1",
"protein_id": "ENSP00000581186.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911127.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000911128.1",
"protein_id": "ENSP00000581187.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911128.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000937879.1",
"protein_id": "ENSP00000607938.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937879.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000948595.1",
"protein_id": "ENSP00000618654.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948595.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000948598.1",
"protein_id": "ENSP00000618657.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948598.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000948599.1",
"protein_id": "ENSP00000618658.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948599.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "ENST00000948600.1",
"protein_id": "ENSP00000618659.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948600.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1240G>T",
"hgvs_p": "p.Val414Leu",
"transcript": "ENST00000948594.1",
"protein_id": "ENSP00000618653.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 511,
"cds_start": 1240,
"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": "ENST00000948594.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu",
"transcript": "ENST00000948597.1",
"protein_id": "ENSP00000618656.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 503,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948597.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Val380Leu",
"transcript": "ENST00000911124.1",
"protein_id": "ENSP00000581183.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 477,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911124.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1099G>T",
"hgvs_p": "p.Val367Leu",
"transcript": "ENST00000911125.1",
"protein_id": "ENSP00000581184.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 464,
"cds_start": 1099,
"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": "ENST00000911125.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu",
"transcript": "XM_047416887.1",
"protein_id": "XP_047272843.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 513,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "n.1042G>T",
"hgvs_p": null,
"transcript": "ENST00000468057.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000468057.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"hgvs_c": "n.1312G>T",
"hgvs_p": null,
"transcript": "ENST00000484228.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000484228.1"
}
],
"gene_symbol": "SLC41A1",
"gene_hgnc_id": 19429,
"dbsnp": "rs369862450",
"frequency_reference_population": 6.8408434e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84084e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8083007335662842,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8555,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173854.6",
"gene_symbol": "SLC41A1",
"hgnc_id": 19429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Val416Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}