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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: 17-8253992-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8253992&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8253992,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012393.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_012393.3",
"protein_id": "NP_036525.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1338,
"cds_start": 55,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314666.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012393.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000314666.11",
"protein_id": "ENSP00000313490.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 1338,
"cds_start": 55,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012393.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314666.11"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937384.1",
"protein_id": "ENSP00000607443.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1338,
"cds_start": 55,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937384.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937389.1",
"protein_id": "ENSP00000607448.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1338,
"cds_start": 55,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937389.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000955445.1",
"protein_id": "ENSP00000625504.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1337,
"cds_start": 55,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955445.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937382.1",
"protein_id": "ENSP00000607441.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1335,
"cds_start": 55,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937382.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937387.1",
"protein_id": "ENSP00000607446.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1320,
"cds_start": 55,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937387.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000897613.1",
"protein_id": "ENSP00000567672.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1312,
"cds_start": 55,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897613.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937385.1",
"protein_id": "ENSP00000607444.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1307,
"cds_start": 55,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937385.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937388.1",
"protein_id": "ENSP00000607447.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1294,
"cds_start": 55,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937388.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937383.1",
"protein_id": "ENSP00000607442.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1291,
"cds_start": 55,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937383.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000937386.1",
"protein_id": "ENSP00000607445.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1291,
"cds_start": 55,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937386.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000584044.5",
"protein_id": "ENSP00000464689.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 134,
"cds_start": 55,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584044.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000625942.1",
"protein_id": "ENSP00000487260.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 131,
"cds_start": 55,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625942.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000581242.3",
"protein_id": "ENSP00000463045.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 102,
"cds_start": 55,
"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": "ENST00000581242.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000585183.5",
"protein_id": "ENSP00000463362.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 86,
"cds_start": 55,
"cds_end": null,
"cds_length": 263,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585183.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "XM_024450804.2",
"protein_id": "XP_024306572.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1338,
"cds_start": 55,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450804.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "XM_047436296.1",
"protein_id": "XP_047292252.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 992,
"cds_start": 55,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436296.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "XM_006721546.4",
"protein_id": "XP_006721609.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721546.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "XM_047436297.1",
"protein_id": "XP_047292253.1",
"transcript_support_level": null,
"aa_start": 19,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436297.1"
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "XM_047436298.1",
"protein_id": "XP_047292254.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 777,
"cds_start": 55,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "n.55C>T",
"hgvs_p": null,
"transcript": "ENST00000580356.5",
"protein_id": "ENSP00000464671.1",
"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": "ENST00000580356.5"
}
],
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"dbsnp": "rs9891699",
"frequency_reference_population": 0.77165645,
"hom_count_reference_population": 485964,
"allele_count_reference_population": 1245222,
"gnomad_exomes_af": 0.778706,
"gnomad_genomes_af": 0.703878,
"gnomad_exomes_ac": 1138210,
"gnomad_genomes_ac": 107012,
"gnomad_exomes_homalt": 446867,
"gnomad_genomes_homalt": 39097,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.051479317648045e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.238,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012393.3",
"gene_symbol": "PFAS",
"hgnc_id": 8863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}