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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: 10-23008323-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=23008323&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 23008323,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000298032.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "NM_173081.5",
"protein_id": "NP_775104.2",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 872,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": "ENST00000298032.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "ENST00000298032.10",
"protein_id": "ENSP00000298032.5",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 872,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": "NM_173081.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "ENST00000409049.7",
"protein_id": "ENSP00000387288.3",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 688,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "NM_001282745.2",
"protein_id": "NP_001269674.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 865,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "ENST00000409983.7",
"protein_id": "ENSP00000386943.3",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 865,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "NM_001282746.2",
"protein_id": "NP_001269675.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 688,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "NM_001282747.2",
"protein_id": "NP_001269676.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 609,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000376528.8",
"protein_id": "ENSP00000365711.4",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 609,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1682G>T",
"hgvs_p": "p.Arg561Leu",
"transcript": "XM_005252380.4",
"protein_id": "XP_005252437.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 807,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1682G>T",
"hgvs_p": "p.Arg561Leu",
"transcript": "XM_017015831.3",
"protein_id": "XP_016871320.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 800,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1613G>T",
"hgvs_p": "p.Arg538Leu",
"transcript": "XM_005252381.3",
"protein_id": "XP_005252438.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 784,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "XM_011519350.4",
"protein_id": "XP_011517652.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "XM_017015832.3",
"protein_id": "XP_016871321.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 681,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.1682G>T",
"hgvs_p": "p.Arg561Leu",
"transcript": "XM_017015833.3",
"protein_id": "XP_016871322.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 623,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "c.605G>T",
"hgvs_p": "p.Arg202Leu",
"transcript": "XM_011519351.3",
"protein_id": "XP_011517653.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 448,
"cds_start": 605,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"hgvs_c": "n.295G>T",
"hgvs_p": null,
"transcript": "ENST00000491803.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286924",
"gene_hgnc_id": null,
"hgvs_c": "n.134-42005C>A",
"hgvs_p": null,
"transcript": "ENST00000653802.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286924",
"gene_hgnc_id": null,
"hgvs_c": "n.117-42005C>A",
"hgvs_p": null,
"transcript": "ENST00000655462.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286924",
"gene_hgnc_id": null,
"hgvs_c": "n.373-10399C>A",
"hgvs_p": null,
"transcript": "ENST00000655837.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286924",
"gene_hgnc_id": null,
"hgvs_c": "n.465-10399C>A",
"hgvs_p": null,
"transcript": "ENST00000662527.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286924",
"gene_hgnc_id": null,
"hgvs_c": "n.157-12505C>A",
"hgvs_p": null,
"transcript": "ENST00000785781.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107984215",
"gene_hgnc_id": null,
"hgvs_c": "n.555-12505C>A",
"hgvs_p": null,
"transcript": "XR_001747394.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC3",
"gene_hgnc_id": 30964,
"dbsnp": "rs10828395",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33909571170806885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.289,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.025,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000298032.10",
"gene_symbol": "ARMC3",
"hgnc_id": 30964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000653802.1",
"gene_symbol": "ENSG00000286924",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.134-42005C>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001747394.2",
"gene_symbol": "LOC107984215",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.555-12505C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}