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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: 17-82236772-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82236772&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82236772,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004207.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_004207.4",
"protein_id": "NP_004198.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000582743.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004207.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000582743.6",
"protein_id": "ENSP00000462405.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582743.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000581287.5",
"protein_id": "ENSP00000463978.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581287.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001042422.3",
"protein_id": "NP_001035887.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042422.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001042423.3",
"protein_id": "NP_001035888.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042423.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001206950.2",
"protein_id": "NP_001193879.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206950.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001206951.2",
"protein_id": "NP_001193880.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206951.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001206952.2",
"protein_id": "NP_001193881.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206952.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000392339.6",
"protein_id": "ENSP00000376150.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392339.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000392341.6",
"protein_id": "ENSP00000376152.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392341.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000580189.6",
"protein_id": "ENSP00000464112.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580189.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000584689.6",
"protein_id": "ENSP00000464625.2",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584689.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000617373.5",
"protein_id": "ENSP00000483212.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617373.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000619321.2",
"protein_id": "ENSP00000482013.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619321.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877806.1",
"protein_id": "ENSP00000547865.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877806.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877807.1",
"protein_id": "ENSP00000547866.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877807.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877808.1",
"protein_id": "ENSP00000547867.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877808.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877809.1",
"protein_id": "ENSP00000547868.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877809.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877810.1",
"protein_id": "ENSP00000547869.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877810.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877811.1",
"protein_id": "ENSP00000547870.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877811.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000877812.1",
"protein_id": "ENSP00000547871.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877812.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000948113.1",
"protein_id": "ENSP00000618172.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 465,
"cds_start": 267,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -17,
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"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004207.4",
"gene_symbol": "SLC16A3",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -16,
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"BS2"
],
"verdict": "Benign",
"transcript": "NR_106845.1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}