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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: 10-119902823-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119902823&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119902823,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007190.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "NM_007190.4",
"protein_id": "NP_009121.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369075.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007190.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000369075.8",
"protein_id": "ENSP00000358071.3",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369075.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875162.1",
"protein_id": "ENSP00000545221.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1046,
"cds_start": 721,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875162.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000970232.1",
"protein_id": "ENSP00000640291.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1008,
"cds_start": 721,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970232.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875157.1",
"protein_id": "ENSP00000545216.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875157.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875161.1",
"protein_id": "ENSP00000545220.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875161.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875163.1",
"protein_id": "ENSP00000545222.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875163.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923026.1",
"protein_id": "ENSP00000593085.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923026.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923027.1",
"protein_id": "ENSP00000593086.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923027.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "NM_001411070.1",
"protein_id": "NP_001397999.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 999,
"cds_start": 721,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411070.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000705471.1",
"protein_id": "ENSP00000516127.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 999,
"cds_start": 721,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705471.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875159.1",
"protein_id": "ENSP00000545218.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 999,
"cds_start": 721,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875159.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923030.1",
"protein_id": "ENSP00000593089.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 999,
"cds_start": 721,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923030.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000875160.1",
"protein_id": "ENSP00000545219.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 996,
"cds_start": 721,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875160.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923024.1",
"protein_id": "ENSP00000593083.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 972,
"cds_start": 721,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923024.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923025.1",
"protein_id": "ENSP00000593084.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 972,
"cds_start": 721,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923025.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000970233.1",
"protein_id": "ENSP00000640292.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 971,
"cds_start": 721,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970233.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923028.1",
"protein_id": "ENSP00000593087.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 970,
"cds_start": 721,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923028.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000923023.1",
"protein_id": "ENSP00000593082.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 948,
"cds_start": 721,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923023.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Ala94Ser",
"transcript": "ENST00000923029.1",
"protein_id": "ENSP00000593088.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 853,
"cds_start": 280,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923029.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "ENST00000442952.1",
"protein_id": "ENSP00000416723.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442952.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "XM_047424537.1",
"protein_id": "XP_047280493.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1000,
"cds_start": 721,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424537.1"
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_007190.4",
"gene_symbol": "SEC23IP",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}