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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: 14-61030483-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61030483&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61030483,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001172702.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "NM_153811.3",
"protein_id": "NP_722518.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 456,
"cds_start": 442,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267488.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153811.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "ENST00000267488.9",
"protein_id": "ENSP00000267488.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 456,
"cds_start": 442,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153811.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267488.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "ENST00000354886.6",
"protein_id": "ENSP00000346959.2",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 521,
"cds_start": 442,
"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": "ENST00000354886.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Pro143Ser",
"transcript": "ENST00000451406.5",
"protein_id": "ENSP00000395851.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 516,
"cds_start": 427,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*221C>T",
"hgvs_p": null,
"transcript": "ENST00000491344.7",
"protein_id": "ENSP00000431212.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491344.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*631C>T",
"hgvs_p": null,
"transcript": "ENST00000527591.5",
"protein_id": "ENSP00000434737.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*221C>T",
"hgvs_p": null,
"transcript": "ENST00000491344.7",
"protein_id": "ENSP00000431212.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491344.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*631C>T",
"hgvs_p": null,
"transcript": "ENST00000527591.5",
"protein_id": "ENSP00000434737.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527591.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "NM_001172702.2",
"protein_id": "NP_001166173.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 521,
"cds_start": 442,
"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": "NM_001172702.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "ENST00000878035.1",
"protein_id": "ENSP00000548094.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 416,
"cds_start": 442,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878035.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Pro65Ser",
"transcript": "ENST00000533744.6",
"protein_id": "ENSP00000434543.2",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 192,
"cds_start": 193,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533744.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "ENST00000526105.5",
"protein_id": "ENSP00000451244.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 125,
"cds_start": 280,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526105.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "ENST00000534758.1",
"protein_id": "ENSP00000482800.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 41,
"cds_start": 82,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534758.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_017021020.2",
"protein_id": "XP_016876509.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 459,
"cds_start": 442,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021020.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_047431001.1",
"protein_id": "XP_047286957.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 459,
"cds_start": 442,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431001.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_047431002.1",
"protein_id": "XP_047286958.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 459,
"cds_start": 442,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431002.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_017021021.2",
"protein_id": "XP_016876510.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 441,
"cds_start": 442,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021021.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_047431003.1",
"protein_id": "XP_047286959.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 441,
"cds_start": 442,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431003.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_047431004.1",
"protein_id": "XP_047286960.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 438,
"cds_start": 442,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431004.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Pro125Ser",
"transcript": "XM_017021022.2",
"protein_id": "XP_016876511.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 436,
"cds_start": 373,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021022.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"transcript": "XM_017021023.2",
"protein_id": "XP_016876512.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 435,
"cds_start": 442,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021023.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Pro125Ser",
"transcript": "XM_047431005.1",
"protein_id": "XP_047286961.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 433,
"cds_start": 373,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"inheritance_mode": "AR",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}