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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: 6-25921357-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25921357&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25921357,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286123.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "NM_001286123.3",
"protein_id": "NP_001273052.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377850.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286123.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000377850.8",
"protein_id": "ENSP00000367081.3",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286123.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377850.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000360488.7",
"protein_id": "ENSP00000353677.3",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 436,
"cds_start": 296,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360488.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882944.1",
"protein_id": "ENSP00000553003.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"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": "ENST00000882944.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882945.1",
"protein_id": "ENSP00000553004.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"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": "ENST00000882945.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882947.1",
"protein_id": "ENSP00000553006.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"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": "ENST00000882947.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000265425.3",
"protein_id": "ENSP00000265425.3",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 439,
"cds_start": 296,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265425.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "NM_005835.4",
"protein_id": "NP_005826.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 436,
"cds_start": 296,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005835.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882948.1",
"protein_id": "ENSP00000553007.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 424,
"cds_start": 296,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882948.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882949.1",
"protein_id": "ENSP00000553008.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 424,
"cds_start": 296,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882949.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "NM_001286125.2",
"protein_id": "NP_001273054.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 398,
"cds_start": 296,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286125.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882952.1",
"protein_id": "ENSP00000553011.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 354,
"cds_start": 296,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882952.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "ENST00000882950.1",
"protein_id": "ENSP00000553009.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 342,
"cds_start": 296,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882950.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "XM_006714949.4",
"protein_id": "XP_006715012.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 478,
"cds_start": 296,
"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": "XM_006714949.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"transcript": "XM_006714950.3",
"protein_id": "XP_006715013.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 455,
"cds_start": 227,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714950.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"transcript": "XM_017010159.2",
"protein_id": "XP_016865648.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 455,
"cds_start": 227,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010159.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "XM_047418065.1",
"protein_id": "XP_047274021.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 439,
"cds_start": 296,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418065.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "XM_047418066.1",
"protein_id": "XP_047274022.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 436,
"cds_start": 296,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418066.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "XM_006714951.2",
"protein_id": "XP_006715014.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 398,
"cds_start": 296,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714951.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser",
"transcript": "XM_017010160.2",
"protein_id": "XP_016865649.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 356,
"cds_start": 296,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010160.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.241-264A>G",
"hgvs_p": null,
"transcript": "ENST00000882946.1",
"protein_id": "ENSP00000553005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"hgvs_c": "c.241-264A>G",
"hgvs_p": null,
"transcript": "ENST00000882951.1",
"protein_id": "ENSP00000553010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882951.1"
}
],
"gene_symbol": "SLC17A2",
"gene_hgnc_id": 10930,
"dbsnp": "rs760399894",
"frequency_reference_population": 0.0000065713384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09552177786827087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.0654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.377,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001286123.3",
"gene_symbol": "SLC17A2",
"hgnc_id": 10930,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Asn99Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}