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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: 10-102473825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102473825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102473825,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024789.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC68A1",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "NM_024789.4",
"protein_id": "NP_079065.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238936.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024789.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000238936.8",
"protein_id": "ENSP00000238936.3",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024789.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238936.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000873281.1",
"protein_id": "ENSP00000543340.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873281.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000873284.1",
"protein_id": "ENSP00000543343.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873284.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000873285.1",
"protein_id": "ENSP00000543344.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873285.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000873288.1",
"protein_id": "ENSP00000543347.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873288.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000873290.1",
"protein_id": "ENSP00000543349.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873290.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000933878.1",
"protein_id": "ENSP00000603937.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933878.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000933879.1",
"protein_id": "ENSP00000603938.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933879.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000933883.1",
"protein_id": "ENSP00000603942.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933883.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Arg368Arg",
"transcript": "ENST00000968100.1",
"protein_id": "ENSP00000638159.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 517,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968100.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.846C>T",
"hgvs_p": "p.Arg282Arg",
"transcript": "ENST00000933881.1",
"protein_id": "ENSP00000603940.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 431,
"cds_start": 846,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933881.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873282.1",
"protein_id": "ENSP00000543341.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873282.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873283.1",
"protein_id": "ENSP00000543342.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873283.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873286.1",
"protein_id": "ENSP00000543345.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873286.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873287.1",
"protein_id": "ENSP00000543346.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873287.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873289.1",
"protein_id": "ENSP00000543348.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873289.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000873291.1",
"protein_id": "ENSP00000543350.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873291.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000933882.1",
"protein_id": "ENSP00000603941.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933882.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Arg217Arg",
"transcript": "ENST00000968098.1",
"protein_id": "ENSP00000638157.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 366,
"cds_start": 651,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968098.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000933880.1",
"protein_id": "ENSP00000603939.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 297,
"cds_start": 444,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933880.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD13A",
"gene_hgnc_id": 26196,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Arg86Arg",
"transcript": "ENST00000933884.1",
"protein_id": "ENSP00000603943.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 235,
"cds_start": 258,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
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{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000636707.1",
"gene_symbol": "ACTR1A",
"hgnc_id": 167,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.658-844G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}