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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: 11-49200333-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=49200333&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 49200333,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004476.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "NM_004476.3",
"protein_id": "NP_004467.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 750,
"cds_start": 333,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256999.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004476.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000256999.7",
"protein_id": "ENSP00000256999.2",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 750,
"cds_start": 333,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004476.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256999.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "ENST00000340334.11",
"protein_id": "ENSP00000344131.7",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340334.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000356696.7",
"protein_id": "ENSP00000349129.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 719,
"cds_start": 333,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356696.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "ENST00000533034.1",
"protein_id": "ENSP00000431463.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 704,
"cds_start": 288,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.348A>T",
"hgvs_p": null,
"transcript": "ENST00000529646.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000529646.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.414A>T",
"hgvs_p": "p.Ala138Ala",
"transcript": "ENST00000897368.1",
"protein_id": "ENSP00000567427.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 777,
"cds_start": 414,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897368.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.447A>T",
"hgvs_p": "p.Ala149Ala",
"transcript": "ENST00000897370.1",
"protein_id": "ENSP00000567429.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 757,
"cds_start": 447,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897370.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000953049.1",
"protein_id": "ENSP00000623108.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 745,
"cds_start": 333,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953049.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001193471.3",
"protein_id": "NP_001180400.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193471.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "NM_001014986.3",
"protein_id": "NP_001014986.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 719,
"cds_start": 333,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014986.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000897369.1",
"protein_id": "ENSP00000567428.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 714,
"cds_start": 333,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897369.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000953048.1",
"protein_id": "ENSP00000623107.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 713,
"cds_start": 333,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953048.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001193472.3",
"protein_id": "NP_001180401.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 704,
"cds_start": 288,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193472.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "NM_001351236.2",
"protein_id": "NP_001338165.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 662,
"cds_start": 162,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351236.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "ENST00000529117.1",
"protein_id": "ENSP00000431577.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 63,
"cds_start": 162,
"cds_end": null,
"cds_length": 194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529117.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.498A>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_017017432.2",
"protein_id": "XP_016872921.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 805,
"cds_start": 498,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017432.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.498A>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_017017433.3",
"protein_id": "XP_016872922.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 774,
"cds_start": 498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017433.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "XM_017017434.2",
"protein_id": "XP_016872923.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017434.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426678.1",
"protein_id": "XP_047282634.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426678.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426679.1",
"protein_id": "XP_047282635.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426679.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426680.1",
"protein_id": "XP_047282636.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426680.1"
},
{
"aa_ref": "A",
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{
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"verdict": "Benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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}
],
"message": null
}