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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: 3-129288884-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129288884&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129288884,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020187.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "NM_020187.3",
"protein_id": "NP_064572.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383463.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020187.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000383463.9",
"protein_id": "ENSP00000372955.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020187.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383463.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000389735.7",
"protein_id": "ENSP00000374385.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389735.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000502878.6",
"protein_id": "ENSP00000426215.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502878.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000417226.6",
"protein_id": "ENSP00000392966.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 214,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417226.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"transcript": "ENST00000857376.1",
"protein_id": "ENSP00000527435.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 232,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857376.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"transcript": "ENST00000857380.1",
"protein_id": "ENSP00000527439.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 232,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857380.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"transcript": "ENST00000949829.1",
"protein_id": "ENSP00000619888.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 232,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949829.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "NM_001006109.1",
"protein_id": "NP_001006109.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006109.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "NM_001370343.1",
"protein_id": "NP_001357272.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370343.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "NM_001370344.1",
"protein_id": "NP_001357273.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370344.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857375.1",
"protein_id": "ENSP00000527434.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857375.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857381.1",
"protein_id": "ENSP00000527440.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857381.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857382.1",
"protein_id": "ENSP00000527441.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857382.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857387.1",
"protein_id": "ENSP00000527446.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857387.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857389.1",
"protein_id": "ENSP00000527448.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857389.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000949828.1",
"protein_id": "ENSP00000619887.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 214,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949828.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000928763.1",
"protein_id": "ENSP00000598822.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 353,
"cds_start": 214,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928763.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"transcript": "ENST00000857383.1",
"protein_id": "ENSP00000527442.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 318,
"cds_start": 232,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857383.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "NM_001363881.1",
"protein_id": "NP_001350810.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 214,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363881.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857377.1",
"protein_id": "ENSP00000527436.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 214,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857377.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Pro72Ser",
"transcript": "ENST00000857378.1",
"protein_id": "ENSP00000527437.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 214,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857378.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}