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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: 11-75568818-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75568818&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75568818,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001235.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001235.5",
"protein_id": "NP_001226.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358171.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001235.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000358171.8",
"protein_id": "ENSP00000350894.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001235.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358171.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000530284.5",
"protein_id": "ENSP00000436305.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 324,
"cds_start": 710,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530284.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001207014.3",
"protein_id": "NP_001193943.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207014.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440311.1",
"protein_id": "NP_001427240.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440311.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440312.1",
"protein_id": "NP_001427241.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440312.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440313.1",
"protein_id": "NP_001427242.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440313.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440314.1",
"protein_id": "NP_001427243.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440314.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440315.1",
"protein_id": "NP_001427244.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440315.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "NM_001440316.1",
"protein_id": "NP_001427245.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440316.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000524558.5",
"protein_id": "ENSP00000434412.1",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524558.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000533603.5",
"protein_id": "ENSP00000434657.1",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533603.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000872810.1",
"protein_id": "ENSP00000542869.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872810.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000872811.1",
"protein_id": "ENSP00000542870.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872811.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000872812.1",
"protein_id": "ENSP00000542871.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872812.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000872813.1",
"protein_id": "ENSP00000542872.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872813.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922053.1",
"protein_id": "ENSP00000592112.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922053.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922054.1",
"protein_id": "ENSP00000592113.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922054.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922055.1",
"protein_id": "ENSP00000592114.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922055.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922056.1",
"protein_id": "ENSP00000592115.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922056.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922057.1",
"protein_id": "ENSP00000592116.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922057.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Met237Thr",
"transcript": "ENST00000922058.1",
"protein_id": "ENSP00000592117.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 418,
"cds_start": 710,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Osteogenesis imperfecta type 10|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}