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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: 19-1043749-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1043749&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1043749,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019112.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "NM_019112.4",
"protein_id": "NP_061985.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2146,
"cds_start": 955,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263094.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019112.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "ENST00000263094.11",
"protein_id": "ENSP00000263094.6",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 2146,
"cds_start": 955,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263094.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.1635A>G",
"hgvs_p": null,
"transcript": "ENST00000433129.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000433129.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438044.1",
"protein_id": "XP_047294000.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2146,
"cds_start": 955,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438044.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438045.1",
"protein_id": "XP_047294001.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2137,
"cds_start": 955,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438045.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_006722616.2",
"protein_id": "XP_006722679.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2128,
"cds_start": 955,
"cds_end": null,
"cds_length": 6387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722616.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438046.1",
"protein_id": "XP_047294002.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2128,
"cds_start": 955,
"cds_end": null,
"cds_length": 6387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438046.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438047.1",
"protein_id": "XP_047294003.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 2103,
"cds_start": 955,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438047.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438048.1",
"protein_id": "XP_047294004.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1997,
"cds_start": 955,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438048.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Thr167Ala",
"transcript": "XM_047438049.1",
"protein_id": "XP_047294005.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1994,
"cds_start": 499,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438049.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438051.1",
"protein_id": "XP_047294007.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1988,
"cds_start": 955,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438051.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438052.1",
"protein_id": "XP_047294008.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1688,
"cds_start": 955,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438052.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_006722617.3",
"protein_id": "XP_006722680.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1636,
"cds_start": 955,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722617.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_011527633.3",
"protein_id": "XP_011525935.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1631,
"cds_start": 955,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527633.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438053.1",
"protein_id": "XP_047294009.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1593,
"cds_start": 955,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438053.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_011527634.2",
"protein_id": "XP_011525936.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1487,
"cds_start": 955,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527634.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_011527635.2",
"protein_id": "XP_011525937.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1487,
"cds_start": 955,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527635.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "XM_047438056.1",
"protein_id": "XP_047294012.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1242,
"cds_start": 955,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.1182A>G",
"hgvs_p": null,
"transcript": "XR_007066538.1",
"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": "XR_007066538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.1182A>G",
"hgvs_p": null,
"transcript": "XR_936149.2",
"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": "XR_936149.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.1182A>G",
"hgvs_p": null,
"transcript": "XR_936152.2",
"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": "XR_936152.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.1182A>G",
"hgvs_p": null,
"transcript": "XR_936154.2",
"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": "XR_936154.2"
}
],
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"dbsnp": "rs3752232",
"frequency_reference_population": 0.050743565,
"hom_count_reference_population": 3836,
"allele_count_reference_population": 81831,
"gnomad_exomes_af": 0.0459374,
"gnomad_genomes_af": 0.0970309,
"gnomad_exomes_ac": 67112,
"gnomad_genomes_ac": 14719,
"gnomad_exomes_homalt": 2477,
"gnomad_genomes_homalt": 1359,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003932923078536987,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.0536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.565,
"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_019112.4",
"gene_symbol": "ABCA7",
"hgnc_id": 37,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}