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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: 14-94623782-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94623782&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94623782,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001085.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "NM_001085.5",
"protein_id": "NP_001076.2",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": "ENST00000393078.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "ENST00000393078.5",
"protein_id": "ENSP00000376793.3",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": "NM_001085.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "ENST00000393080.8",
"protein_id": "ENSP00000376795.4",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Met196Val",
"transcript": "ENST00000482740.2",
"protein_id": "ENSP00000451119.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 205,
"cds_start": 586,
"cds_end": null,
"cds_length": 618,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273259",
"gene_hgnc_id": null,
"hgvs_c": "n.*2066A>G",
"hgvs_p": null,
"transcript": "ENST00000553947.1",
"protein_id": "ENSP00000452367.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000556968.2",
"protein_id": "ENSP00000452476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273259",
"gene_hgnc_id": null,
"hgvs_c": "n.*2066A>G",
"hgvs_p": null,
"transcript": "ENST00000553947.1",
"protein_id": "ENSP00000452367.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000556968.2",
"protein_id": "ENSP00000452476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "NM_001384672.1",
"protein_id": "NP_001371601.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "NM_001384673.1",
"protein_id": "NP_001371602.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "NM_001384674.1",
"protein_id": "NP_001371603.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Met414Val",
"transcript": "ENST00000467132.5",
"protein_id": "ENSP00000450540.1",
"transcript_support_level": 2,
"aa_start": 414,
"aa_end": null,
"aa_length": 423,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 2388,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.184-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812399.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.322-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812400.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.488-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812401.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.461-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.436-5852T>C",
"hgvs_p": null,
"transcript": "ENST00000812403.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.252-5852T>C",
"hgvs_p": null,
"transcript": "ENST00000812404.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.435-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812405.1",
"protein_id": null,
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"cdna_length": 1199,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.250-4020T>C",
"hgvs_p": null,
"transcript": "ENST00000812406.1",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.433-4020T>C",
"hgvs_p": null,
"transcript": "ENST00000812407.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.174-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812408.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305687",
"gene_hgnc_id": null,
"hgvs_c": "n.78-4018T>C",
"hgvs_p": null,
"transcript": "ENST00000812409.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"phenotype_combined": "ANTICHYMOTRYPSIN ISEHARA 1|Peripheral arterial occlusive disease 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}