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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: 9-2029089-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2029089&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2029089,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003070.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003070.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003070.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349721.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382203.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 1514,
"cds_start": 67,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450198.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289396.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000866697.1",
"protein_id": "ENSP00000536756.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866697.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000915468.1",
"protein_id": "ENSP00000585527.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915468.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000953439.1",
"protein_id": "ENSP00000623498.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1590,
"cds_start": 67,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953439.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139045.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357248.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382194.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000866695.1",
"protein_id": "ENSP00000536754.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866695.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000866696.1",
"protein_id": "ENSP00000536755.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866696.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000866698.1",
"protein_id": "ENSP00000536757.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866698.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000953438.1",
"protein_id": "ENSP00000623497.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1572,
"cds_start": 67,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953438.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1514,
"cds_start": 67,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289397.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000637134.2",
"protein_id": "ENSP00000489667.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 1151,
"cds_start": 67,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637134.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000704353.1",
"protein_id": "ENSP00000515864.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 654,
"cds_start": 67,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704353.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000704352.1",
"protein_id": "ENSP00000515863.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 636,
"cds_start": 67,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704352.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000636903.1",
"protein_id": "ENSP00000489968.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 288,
"cds_start": 67,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636903.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000637103.1",
"protein_id": "ENSP00000490486.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 288,
"cds_start": 67,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637103.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Pro23Ser",
"transcript": "ENST00000636559.1",
"protein_id": "ENSP00000490852.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 279,
"cds_start": 67,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636559.1"
},
{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Autism spectrum disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autism spectrum disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}