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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: 12-7064316-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7064316&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7064316,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001734.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "NM_001734.5",
"protein_id": "NP_001725.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360817.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001734.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000360817.10",
"protein_id": "ENSP00000354057.5",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001734.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360817.10"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000328916.7",
"protein_id": "ENSP00000328173.3",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328916.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000402681.7",
"protein_id": "ENSP00000384171.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402681.7"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "NM_201442.4",
"protein_id": "NP_958850.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201442.4"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000406697.5",
"protein_id": "ENSP00000385035.1",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406697.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857916.1",
"protein_id": "ENSP00000527975.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857916.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857923.1",
"protein_id": "ENSP00000527982.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857923.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857925.1",
"protein_id": "ENSP00000527984.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857925.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956019.1",
"protein_id": "ENSP00000626078.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956019.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956020.1",
"protein_id": "ENSP00000626079.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956020.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956021.1",
"protein_id": "ENSP00000626080.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 688,
"cds_start": 441,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956021.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857911.1",
"protein_id": "ENSP00000527970.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 687,
"cds_start": 441,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857911.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857912.1",
"protein_id": "ENSP00000527971.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 687,
"cds_start": 441,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857912.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857924.1",
"protein_id": "ENSP00000527983.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 687,
"cds_start": 441,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857924.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956014.1",
"protein_id": "ENSP00000626073.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 685,
"cds_start": 441,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956014.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857920.1",
"protein_id": "ENSP00000527979.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 681,
"cds_start": 441,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857920.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956013.1",
"protein_id": "ENSP00000626072.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 681,
"cds_start": 441,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956013.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857914.1",
"protein_id": "ENSP00000527973.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 675,
"cds_start": 441,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857914.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000956017.1",
"protein_id": "ENSP00000626076.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 675,
"cds_start": 441,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956017.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857913.1",
"protein_id": "ENSP00000527972.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 663,
"cds_start": 441,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857913.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1S",
"gene_hgnc_id": 1247,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000857915.1",
"protein_id": "ENSP00000527974.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 663,
"cds_start": 441,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}