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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: 2-80303718-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=80303718&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 80303718,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_178839.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "NM_178839.5",
"protein_id": "NP_849161.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178839.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000295057.4",
"protein_id": "ENSP00000295057.3",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178839.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295057.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "NM_001282597.3",
"protein_id": "NP_001269526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282597.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "ENST00000402739.9",
"protein_id": "ENSP00000384638.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282597.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402739.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "ENST00000496558.5",
"protein_id": "ENSP00000419295.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496558.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "ENST00000417012.5",
"protein_id": "ENSP00000393562.1",
"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": "ENST00000417012.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "ENST00000433224.1",
"protein_id": "ENSP00000414523.1",
"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": "ENST00000433224.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000409148.1",
"protein_id": "ENSP00000386646.1",
"transcript_support_level": 4,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409148.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000873881.1",
"protein_id": "ENSP00000543940.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873881.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000873882.1",
"protein_id": "ENSP00000543941.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873882.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000416268.1",
"protein_id": "ENSP00000415368.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 222,
"cds_start": 102,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416268.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000452811.1",
"protein_id": "ENSP00000389473.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 182,
"cds_start": 102,
"cds_end": null,
"cds_length": 551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452811.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000415098.1",
"protein_id": "ENSP00000404557.1",
"transcript_support_level": 4,
"aa_start": 34,
"aa_end": null,
"aa_length": 108,
"cds_start": 102,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415098.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_017003986.3",
"protein_id": "XP_016859475.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003986.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_017003987.3",
"protein_id": "XP_016859476.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003987.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_047444146.1",
"protein_id": "XP_047300102.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 522,
"cds_start": 102,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1159-89493G>A",
"hgvs_p": null,
"transcript": "NM_001282598.2",
"protein_id": "NP_001269527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282598.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "NM_001399737.1",
"protein_id": "NP_001386666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "NM_004389.4",
"protein_id": "NP_004380.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004389.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "ENST00000466387.5",
"protein_id": "ENSP00000418191.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "NM_001164883.2",
"protein_id": "NP_001158355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164883.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-89493G>A",
"hgvs_p": null,
"transcript": "ENST00000629316.2",
"protein_id": "ENSP00000486160.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629316.2"
},
{
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{
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"BP7",
"BS2"
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"verdict": "Benign",
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{
"score": -2,
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}