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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: 14-94380925-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94380925&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94380925,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000295.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_000295.5",
"protein_id": "NP_000286.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393087.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000295.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000393087.9",
"protein_id": "ENSP00000376802.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000295.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393087.9"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000355814.8",
"protein_id": "ENSP00000348068.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000355814.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000393088.8",
"protein_id": "ENSP00000376803.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000393088.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000404814.8",
"protein_id": "ENSP00000385960.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000404814.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000437397.5",
"protein_id": "ENSP00000408474.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000437397.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000440909.5",
"protein_id": "ENSP00000390299.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000440909.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000448921.5",
"protein_id": "ENSP00000416066.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000448921.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000449399.7",
"protein_id": "ENSP00000416354.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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": "ENST00000449399.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000402629.1",
"protein_id": "ENSP00000386094.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 359,
"cds_start": 863,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "n.863A>T",
"hgvs_p": null,
"transcript": "ENST00000489769.1",
"protein_id": "ENSP00000451525.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489769.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001002235.3",
"protein_id": "NP_001002235.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001002235.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001002236.3",
"protein_id": "NP_001002236.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001002236.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127700.2",
"protein_id": "NP_001121172.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127700.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127701.2",
"protein_id": "NP_001121173.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127701.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127702.2",
"protein_id": "NP_001121174.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127702.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127703.2",
"protein_id": "NP_001121175.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127703.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127704.2",
"protein_id": "NP_001121176.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127704.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127705.2",
"protein_id": "NP_001121177.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127705.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127706.2",
"protein_id": "NP_001121178.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127706.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "NM_001127707.2",
"protein_id": "NP_001121179.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"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_001127707.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000636712.1",
"protein_id": "ENSP00000490054.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 863,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:18 US:1 O:4",
"phenotype_combined": "Alpha-1-antitrypsin deficiency|not provided|Alpha-1-antitrypsin deficiency;Chronic obstructive pulmonary disease|PI S|Inborn genetic diseases|Cystic fibrosis|not specified|SERPINA1-related disorder|Susceptibility to severe coronavirus disease (COVID-19)",
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"custom_annotations": null
}
],
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}