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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: 17-4969182-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4969182&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4969182,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015099.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3438C>G",
"hgvs_p": "p.His1146Gln",
"transcript": "NM_015099.4",
"protein_id": "NP_055914.2",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3438,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000348066.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3438C>G",
"hgvs_p": "p.His1146Gln",
"transcript": "ENST00000348066.8",
"protein_id": "ENSP00000321813.7",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3438,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_015099.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3507C>G",
"hgvs_p": "p.His1169Gln",
"transcript": "ENST00000414043.7",
"protein_id": "ENSP00000412886.3",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3435C>G",
"hgvs_p": "p.His1145Gln",
"transcript": "ENST00000361571.9",
"protein_id": "ENSP00000354828.5",
"transcript_support_level": 1,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3423C>G",
"hgvs_p": "p.His1141Gln",
"transcript": "ENST00000381311.9",
"protein_id": "ENSP00000370712.5",
"transcript_support_level": 1,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3507C>G",
"hgvs_p": "p.His1169Gln",
"transcript": "NM_001171167.2",
"protein_id": "NP_001164638.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 4010,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3453C>G",
"hgvs_p": "p.His1151Gln",
"transcript": "ENST00000572543.5",
"protein_id": "ENSP00000460779.1",
"transcript_support_level": 5,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3453,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3435C>G",
"hgvs_p": "p.His1145Gln",
"transcript": "NM_001171168.2",
"protein_id": "NP_001164639.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3423C>G",
"hgvs_p": "p.His1141Gln",
"transcript": "NM_001171166.2",
"protein_id": "NP_001164637.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3522C>G",
"hgvs_p": "p.His1174Gln",
"transcript": "XM_011523746.4",
"protein_id": "XP_011522048.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3522,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 4025,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3507C>G",
"hgvs_p": "p.His1169Gln",
"transcript": "XM_011523747.4",
"protein_id": "XP_011522049.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4010,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3501C>G",
"hgvs_p": "p.His1167Gln",
"transcript": "XM_011523748.4",
"protein_id": "XP_011522050.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3501,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 4004,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3486C>G",
"hgvs_p": "p.His1162Gln",
"transcript": "XM_011523749.4",
"protein_id": "XP_011522051.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3486,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3453C>G",
"hgvs_p": "p.His1151Gln",
"transcript": "XM_006721478.5",
"protein_id": "XP_006721541.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3453,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3414C>G",
"hgvs_p": "p.His1138Gln",
"transcript": "XM_047435670.1",
"protein_id": "XP_047291626.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3917,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.2877C>G",
"hgvs_p": "p.His959Gln",
"transcript": "XM_006721482.4",
"protein_id": "XP_006721545.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2877,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.234C>G",
"hgvs_p": null,
"transcript": "ENST00000574442.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*2998C>G",
"hgvs_p": null,
"transcript": "ENST00000574951.5",
"protein_id": "ENSP00000458560.1",
"transcript_support_level": 5,
"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": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*2998C>G",
"hgvs_p": null,
"transcript": "ENST00000574951.5",
"protein_id": "ENSP00000458560.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234203",
"gene_hgnc_id": null,
"hgvs_c": "n.27+906G>C",
"hgvs_p": null,
"transcript": "ENST00000430920.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.-101C>G",
"hgvs_p": null,
"transcript": "ENST00000572192.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*246C>G",
"hgvs_p": null,
"transcript": "ENST00000576872.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"dbsnp": "rs368954349",
"frequency_reference_population": 0.000054630018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000575947,
"gnomad_genomes_af": 0.0000262522,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15071317553520203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.341,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015099.4",
"gene_symbol": "CAMTA2",
"hgnc_id": 18807,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3438C>G",
"hgvs_p": "p.His1146Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000430920.2",
"gene_symbol": "ENSG00000234203",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.27+906G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}