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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: 1-169125039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169125039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169125039,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001677.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "NM_001677.4",
"protein_id": "NP_001668.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367815.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001677.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000367815.9",
"protein_id": "ENSP00000356789.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367815.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000367816.5",
"protein_id": "ENSP00000356790.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367816.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000689522.1",
"protein_id": "ENSP00000509039.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689522.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000690184.1",
"protein_id": "ENSP00000509517.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690184.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000856530.1",
"protein_id": "ENSP00000526589.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 303,
"cds_start": 382,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856530.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000856531.1",
"protein_id": "ENSP00000526590.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 278,
"cds_start": 382,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856531.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000494797.2",
"protein_id": "ENSP00000477015.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494797.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000685155.1",
"protein_id": "ENSP00000508678.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685155.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000685762.1",
"protein_id": "ENSP00000508918.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685762.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000685792.1",
"protein_id": "ENSP00000508616.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685792.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000686702.1",
"protein_id": "ENSP00000509060.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686702.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000687745.1",
"protein_id": "ENSP00000509323.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687745.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Asp72Asn",
"transcript": "ENST00000691753.1",
"protein_id": "ENSP00000509877.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 247,
"cds_start": 214,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691753.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"transcript": "ENST00000691106.1",
"protein_id": "ENSP00000508710.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 183,
"cds_start": 22,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691106.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"transcript": "ENST00000691802.1",
"protein_id": "ENSP00000510565.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 183,
"cds_start": 22,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.2131G>A",
"hgvs_p": null,
"transcript": "ENST00000687013.1",
"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": "ENST00000687013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.229G>A",
"hgvs_p": null,
"transcript": "ENST00000687182.1",
"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": "pseudogene",
"feature": "ENST00000687182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.542G>A",
"hgvs_p": null,
"transcript": "ENST00000688406.1",
"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": "ENST00000688406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.382G>A",
"hgvs_p": null,
"transcript": "ENST00000688755.1",
"protein_id": "ENSP00000508725.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000688755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.2257G>A",
"hgvs_p": null,
"transcript": "ENST00000690604.1",
"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": "ENST00000690604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.542G>A",
"hgvs_p": null,
"transcript": "ENST00000692003.1",
"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": "ENST00000692003.1"
}
],
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"dbsnp": "rs769851426",
"frequency_reference_population": 0.00004228009,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000446377,
"gnomad_genomes_af": 0.0000197169,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024336814880371094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7239999771118164,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.599,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.557785149056694,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001677.4",
"gene_symbol": "ATP1B1",
"hgnc_id": 804,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn"
}
],
"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
}