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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: 13-37564552-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37564552&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37564552,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379747.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2440G>C",
"hgvs_p": "p.Val814Leu",
"transcript": "NM_006475.3",
"protein_id": "NP_006466.2",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 836,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "ENST00000379747.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2440G>C",
"hgvs_p": "p.Val814Leu",
"transcript": "ENST00000379747.9",
"protein_id": "ENSP00000369071.4",
"transcript_support_level": 1,
"aa_start": 814,
"aa_end": null,
"aa_length": 836,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "NM_006475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2359G>C",
"hgvs_p": "p.Val787Leu",
"transcript": "ENST00000379743.8",
"protein_id": "ENSP00000369067.4",
"transcript_support_level": 1,
"aa_start": 787,
"aa_end": null,
"aa_length": 809,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2275G>C",
"hgvs_p": "p.Val759Leu",
"transcript": "ENST00000541179.5",
"protein_id": "ENSP00000437959.1",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 781,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2269G>C",
"hgvs_p": "p.Val757Leu",
"transcript": "ENST00000379742.4",
"protein_id": "ENSP00000369066.4",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 779,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2179G>C",
"hgvs_p": "p.Val727Leu",
"transcript": "ENST00000541481.5",
"protein_id": "ENSP00000437953.1",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 749,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2359G>C",
"hgvs_p": "p.Val787Leu",
"transcript": "NM_001286665.2",
"protein_id": "NP_001273594.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 809,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2356G>C",
"hgvs_p": "p.Val786Leu",
"transcript": "NM_001330517.2",
"protein_id": "NP_001317446.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 808,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2356G>C",
"hgvs_p": "p.Val786Leu",
"transcript": "ENST00000379749.8",
"protein_id": "ENSP00000369073.4",
"transcript_support_level": 5,
"aa_start": 786,
"aa_end": null,
"aa_length": 808,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Val784Leu",
"transcript": "NM_001424172.1",
"protein_id": "NP_001411101.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 806,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2275G>C",
"hgvs_p": "p.Val759Leu",
"transcript": "NM_001135935.2",
"protein_id": "NP_001129407.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 781,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2269G>C",
"hgvs_p": "p.Val757Leu",
"transcript": "NM_001135934.2",
"protein_id": "NP_001129406.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 779,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2266G>C",
"hgvs_p": "p.Val756Leu",
"transcript": "NM_001424173.1",
"protein_id": "NP_001411102.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 778,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2185G>C",
"hgvs_p": "p.Val729Leu",
"transcript": "NM_001135936.2",
"protein_id": "NP_001129408.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 751,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2179G>C",
"hgvs_p": "p.Val727Leu",
"transcript": "NM_001286666.2",
"protein_id": "NP_001273595.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 749,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2140G>C",
"hgvs_p": "p.Val714Leu",
"transcript": "NM_001424174.1",
"protein_id": "NP_001411103.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 736,
"cds_start": 2140,
"cds_end": null,
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"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2095G>C",
"hgvs_p": "p.Val699Leu",
"transcript": "NM_001286667.2",
"protein_id": "NP_001273596.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 721,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2956,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "n.319G>C",
"hgvs_p": null,
"transcript": "ENST00000473823.5",
"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": 502,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "n.452G>C",
"hgvs_p": null,
"transcript": "ENST00000478947.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.*29G>C",
"hgvs_p": null,
"transcript": "XM_017020355.2",
"protein_id": "XP_016875844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.*937G>C",
"hgvs_p": null,
"transcript": "XM_017020356.2",
"protein_id": "XP_016875845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.*937G>C",
"hgvs_p": null,
"transcript": "XM_047430052.1",
"protein_id": "XP_047286008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"dbsnp": "rs9547952",
"frequency_reference_population": 0.0000013858938,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138589,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24820315837860107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.268,
"revel_prediction": "Benign",
"alphamissense_score": 0.1084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.846,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000379747.9",
"gene_symbol": "POSTN",
"hgnc_id": 16953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2440G>C",
"hgvs_p": "p.Val814Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}