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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: 3-193645610-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193645610&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 193645610,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_130837.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "NM_130837.3",
"protein_id": "NP_570850.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1666,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000361510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130837.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "ENST00000361510.8",
"protein_id": "ENSP00000355324.2",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1666,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_130837.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361510.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Ile",
"transcript": "ENST00000361908.8",
"protein_id": "ENSP00000354681.3",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 997,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361908.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1681G>A",
"hgvs_p": "p.Val561Ile",
"transcript": "ENST00000968586.1",
"protein_id": "ENSP00000638645.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1681,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968586.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Val543Ile",
"transcript": "ENST00000968584.1",
"protein_id": "ENSP00000638643.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968584.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Ile",
"transcript": "NM_130836.3",
"protein_id": "NP_570849.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 997,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130836.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Ile",
"transcript": "ENST00000890753.1",
"protein_id": "ENSP00000560812.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 997,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890753.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Ile",
"transcript": "ENST00000925500.1",
"protein_id": "ENSP00000595559.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 997,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925500.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "NM_130835.3",
"protein_id": "NP_570848.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 979,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130835.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "ENST00000361715.6",
"protein_id": "ENSP00000355311.2",
"transcript_support_level": 5,
"aa_start": 520,
"aa_end": null,
"aa_length": 979,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361715.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "ENST00000890756.1",
"protein_id": "ENSP00000560815.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 979,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890756.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "ENST00000968579.1",
"protein_id": "ENSP00000638638.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 979,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968579.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Ile",
"transcript": "NM_130834.3",
"protein_id": "NP_570847.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 978,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130834.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Ile",
"transcript": "ENST00000392437.6",
"protein_id": "ENSP00000376232.2",
"transcript_support_level": 3,
"aa_start": 519,
"aa_end": null,
"aa_length": 978,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392437.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Ile",
"transcript": "ENST00000890755.1",
"protein_id": "ENSP00000560814.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 978,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890755.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Val516Ile",
"transcript": "ENST00000890757.1",
"protein_id": "ENSP00000560816.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 975,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890757.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"transcript": "ENST00000392436.7",
"protein_id": "ENSP00000376231.3",
"transcript_support_level": 3,
"aa_start": 501,
"aa_end": null,
"aa_length": 972,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392436.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "ENST00000968581.1",
"protein_id": "ENSP00000638640.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 968,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968581.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Val506Ile",
"transcript": "ENST00000645553.1",
"protein_id": "ENSP00000494725.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 965,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645553.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"transcript": "NM_130833.3",
"protein_id": "NP_570846.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 961,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130833.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"transcript": "ENST00000361150.6",
"protein_id": "ENSP00000354781.2",
"transcript_support_level": 5,
"aa_start": 502,
"aa_end": null,
"aa_length": 961,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361150.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"transcript": "NM_015560.3",
"protein_id": "NP_056375.2",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}