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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: 4-76195754-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76195754&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76195754,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_005506.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "NM_005506.4",
"protein_id": "NP_005497.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 478,
"cds_start": 228,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "ENST00000264896.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005506.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000264896.8",
"protein_id": "ENSP00000264896.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 478,
"cds_start": 228,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "NM_005506.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264896.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "ENST00000638295.1",
"protein_id": "ENSP00000492288.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "XM_047416429.1",
"protein_id": "XP_047272385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "XM_047416430.1",
"protein_id": "XP_047272386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416430.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Leu68Leu",
"transcript": "ENST00000640634.1",
"protein_id": "ENSP00000492737.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 518,
"cds_start": 204,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640634.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000862445.1",
"protein_id": "ENSP00000532504.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 486,
"cds_start": 228,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862445.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000639145.1",
"protein_id": "ENSP00000492831.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 475,
"cds_start": 228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639145.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000862444.1",
"protein_id": "ENSP00000532503.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 471,
"cds_start": 228,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862444.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000640957.1",
"protein_id": "ENSP00000492004.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 470,
"cds_start": 228,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640957.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000862443.1",
"protein_id": "ENSP00000532502.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 464,
"cds_start": 228,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862443.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000640640.1",
"protein_id": "ENSP00000492246.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 449,
"cds_start": 228,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640640.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000638603.1",
"protein_id": "ENSP00000491728.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 438,
"cds_start": 228,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638603.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000921155.1",
"protein_id": "ENSP00000591214.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 436,
"cds_start": 228,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921155.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000862442.1",
"protein_id": "ENSP00000532501.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 415,
"cds_start": 228,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862442.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "NM_001204255.2",
"protein_id": "NP_001191184.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 335,
"cds_start": 228,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204255.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000452464.6",
"protein_id": "ENSP00000399154.2",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 335,
"cds_start": 228,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452464.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Leu76Leu",
"transcript": "ENST00000639738.1",
"protein_id": "ENSP00000491792.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 174,
"cds_start": 228,
"cds_end": null,
"cds_length": 525,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "ENST00000638295.1",
"protein_id": "ENSP00000492288.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "XM_047416429.1",
"protein_id": "XP_047272385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "XM_047416430.1",
"protein_id": "XP_047272386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416430.1"
},
{
"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": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.481C>G",
"hgvs_p": null,
"transcript": "ENST00000502908.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"verdict": "Benign",
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{
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],
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"clinvar_classification": "Likely benign",
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"phenotype_combined": "not specified|Progressive myoclonic epilepsy|SCARB2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
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}
],
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}