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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: 12-110632552-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110632552&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110632552,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001082538.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "NM_001082538.3",
"protein_id": "NP_001076007.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 592,
"cds_start": 705,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397659.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082538.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000397659.9",
"protein_id": "ENSP00000380779.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 592,
"cds_start": 705,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001082538.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397659.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000551590.5",
"protein_id": "ENSP00000448735.1",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 587,
"cds_start": 705,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551590.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000397655.7",
"protein_id": "ENSP00000380775.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 573,
"cds_start": 705,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397655.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*338C>A",
"hgvs_p": null,
"transcript": "ENST00000397656.8",
"protein_id": "ENSP00000380776.4",
"transcript_support_level": 2,
"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": "ENST00000397656.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*758C>A",
"hgvs_p": null,
"transcript": "ENST00000464809.5",
"protein_id": "ENSP00000435027.1",
"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": "ENST00000464809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.705C>A",
"hgvs_p": null,
"transcript": "ENST00000480648.5",
"protein_id": "ENSP00000437196.1",
"transcript_support_level": 5,
"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": "ENST00000480648.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*463C>A",
"hgvs_p": null,
"transcript": "ENST00000495659.6",
"protein_id": "ENSP00000436673.2",
"transcript_support_level": 2,
"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": "ENST00000495659.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*338C>A",
"hgvs_p": null,
"transcript": "ENST00000397656.8",
"protein_id": "ENSP00000380776.4",
"transcript_support_level": 2,
"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": "ENST00000397656.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*758C>A",
"hgvs_p": null,
"transcript": "ENST00000464809.5",
"protein_id": "ENSP00000435027.1",
"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": "ENST00000464809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*463C>A",
"hgvs_p": null,
"transcript": "ENST00000495659.6",
"protein_id": "ENSP00000436673.2",
"transcript_support_level": 2,
"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": "ENST00000495659.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000889010.1",
"protein_id": "ENSP00000559069.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 636,
"cds_start": 705,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889010.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000889013.1",
"protein_id": "ENSP00000559072.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 610,
"cds_start": 705,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889013.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000889001.1",
"protein_id": "ENSP00000559060.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 605,
"cds_start": 705,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889001.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000949054.1",
"protein_id": "ENSP00000619113.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 597,
"cds_start": 705,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949054.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "NM_001082537.3",
"protein_id": "NP_001076006.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 587,
"cds_start": 705,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082537.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000889012.1",
"protein_id": "ENSP00000559071.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 578,
"cds_start": 705,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889012.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Asn224Lys",
"transcript": "ENST00000889006.1",
"protein_id": "ENSP00000559065.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 576,
"cds_start": 672,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889006.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "ENST00000889002.1",
"protein_id": "ENSP00000559061.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 575,
"cds_start": 705,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889002.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.705C>A",
"hgvs_p": "p.Asn235Lys",
"transcript": "NM_024549.6",
"protein_id": "NP_078825.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 573,
"cds_start": 705,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024549.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.645C>A",
"hgvs_p": "p.Asn215Lys",
"transcript": "ENST00000889009.1",
"protein_id": "ENSP00000559068.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 567,
"cds_start": 645,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889009.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Asn224Lys",
"transcript": "ENST00000949059.1",
"protein_id": "ENSP00000619118.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 562,
"cds_start": 672,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
],
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}