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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: 2-213340234-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213340234&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 213340234,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024532.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "NM_024532.5",
"protein_id": "NP_078808.3",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 631,
"cds_start": 608,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "ENST00000331683.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024532.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "ENST00000331683.10",
"protein_id": "ENSP00000332592.5",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 631,
"cds_start": 608,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "NM_024532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331683.10"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "ENST00000447990.1",
"protein_id": "ENSP00000400847.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 374,
"cds_start": 608,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*609T>C",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"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": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406979.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*609T>C",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"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": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406979.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Val172Ala",
"transcript": "ENST00000413312.5",
"protein_id": "ENSP00000390494.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 251,
"cds_start": 515,
"cds_end": null,
"cds_length": 756,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413312.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Val172Ala",
"transcript": "XM_011511814.2",
"protein_id": "XP_011510116.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 600,
"cds_start": 515,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511814.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511815.3",
"protein_id": "XP_011510117.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 592,
"cds_start": 608,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511815.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511816.4",
"protein_id": "XP_011510118.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 592,
"cds_start": 608,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511816.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511817.3",
"protein_id": "XP_011510119.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 582,
"cds_start": 608,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511817.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511818.3",
"protein_id": "XP_011510120.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 577,
"cds_start": 608,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511818.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Val149Ala",
"transcript": "XM_011511819.3",
"protein_id": "XP_011510121.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 577,
"cds_start": 446,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511819.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511820.3",
"protein_id": "XP_011510122.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 569,
"cds_start": 608,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511820.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.299T>C",
"hgvs_p": "p.Val100Ala",
"transcript": "XM_011511823.4",
"protein_id": "XP_011510125.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 528,
"cds_start": 299,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511823.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511824.3",
"protein_id": "XP_011510126.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 520,
"cds_start": 608,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511824.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Val84Ala",
"transcript": "XM_017004897.1",
"protein_id": "XP_016860386.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 512,
"cds_start": 251,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004897.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Val84Ala",
"transcript": "XM_047445817.1",
"protein_id": "XP_047301773.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 512,
"cds_start": 251,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445817.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511827.3",
"protein_id": "XP_011510129.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 375,
"cds_start": 608,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511827.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511828.3",
"protein_id": "XP_011510130.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 365,
"cds_start": 608,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511828.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511829.3",
"protein_id": "XP_011510131.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 360,
"cds_start": 608,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511829.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511831.3",
"protein_id": "XP_011510133.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 356,
"cds_start": 608,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511831.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Val203Ala",
"transcript": "XM_011511832.3",
"protein_id": "XP_011510134.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 356,
"cds_start": 608,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511832.3"
},
{
"aa_ref": "V",
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{
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{
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],
"gene_symbol": "SPAG16",
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"dbsnp": "rs1185700647",
"frequency_reference_population": 0.0000074453974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000342551,
"gnomad_genomes_af": 0.0000460236,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15341803431510925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.1611,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.055,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024532.5",
"gene_symbol": "SPAG16",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"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
}