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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: 4-42465018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=42465018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 42465018,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006095.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_006095.2",
"protein_id": "NP_006086.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381668.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006095.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000381668.9",
"protein_id": "ENSP00000371084.5",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006095.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381668.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "ENST00000264449.14",
"protein_id": "ENSP00000264449.10",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264449.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*35G>A",
"hgvs_p": null,
"transcript": "ENST00000514372.5",
"protein_id": "ENSP00000426495.1",
"transcript_support_level": 1,
"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": "ENST00000514372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*35G>A",
"hgvs_p": null,
"transcript": "ENST00000514372.5",
"protein_id": "ENSP00000426495.1",
"transcript_support_level": 1,
"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": "ENST00000514372.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001400024.1",
"protein_id": "NP_001386953.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400024.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000905753.1",
"protein_id": "ENSP00000575812.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905753.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Val787Ile",
"transcript": "NM_001400025.1",
"protein_id": "NP_001386954.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2359,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400025.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Val787Ile",
"transcript": "ENST00000905752.1",
"protein_id": "ENSP00000575811.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2359,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905752.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "NM_001105529.1",
"protein_id": "NP_001098999.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105529.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "NM_001400026.1",
"protein_id": "NP_001386955.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400026.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "ENST00000700470.1",
"protein_id": "ENSP00000515003.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700470.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "ENST00000905751.1",
"protein_id": "ENSP00000575810.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905751.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.1846G>A",
"hgvs_p": "p.Val616Ile",
"transcript": "NM_001400027.1",
"protein_id": "NP_001386956.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 985,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400027.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "XM_011513615.2",
"protein_id": "XP_011511917.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513615.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "XM_011513616.3",
"protein_id": "XP_011511918.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513616.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Val787Ile",
"transcript": "XM_047449508.1",
"protein_id": "XP_047305464.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2359,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449508.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Val638Ile",
"transcript": "XM_047449509.1",
"protein_id": "XP_047305465.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1912,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449509.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "XM_047449510.1",
"protein_id": "XP_047305466.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 917,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.*35G>A",
"hgvs_p": null,
"transcript": "XM_047449511.1",
"protein_id": "XP_047305467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449511.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.76G>A",
"hgvs_p": null,
"transcript": "ENST00000506602.5",
"protein_id": "ENSP00000421164.1",
"transcript_support_level": 5,
"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": "ENST00000506602.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.58G>A",
"hgvs_p": null,
"transcript": "ENST00000515872.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000515872.1"
}
],
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"dbsnp": "rs375992978",
"frequency_reference_population": 0.000040271818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000403598,
"gnomad_genomes_af": 0.000039427,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06660440564155579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.107,
"phylop100way_prediction": "Uncertain_significance",
"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": -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_006095.2",
"gene_symbol": "ATP8A1",
"hgnc_id": 13531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile"
}
],
"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
}