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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: 14-61037100-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61037100&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61037100,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000267488.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "NM_153811.3",
"protein_id": "NP_722518.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 456,
"cds_start": 524,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": "ENST00000267488.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "ENST00000267488.9",
"protein_id": "ENSP00000267488.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 456,
"cds_start": 524,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": "NM_153811.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "ENST00000354886.6",
"protein_id": "ENSP00000346959.2",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 521,
"cds_start": 524,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Cys170Tyr",
"transcript": "ENST00000451406.5",
"protein_id": "ENSP00000395851.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 516,
"cds_start": 509,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*398G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*713G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*398G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*713G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"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": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.-80G>A",
"hgvs_p": null,
"transcript": "XM_024449496.2",
"protein_id": "XP_024305264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "NM_001172702.2",
"protein_id": "NP_001166173.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 521,
"cds_start": 524,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Cys92Tyr",
"transcript": "ENST00000533744.6",
"protein_id": "ENSP00000434543.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 275,
"cds_end": null,
"cds_length": 581,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Cys121Tyr",
"transcript": "ENST00000526105.5",
"protein_id": "ENSP00000451244.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 125,
"cds_start": 362,
"cds_end": null,
"cds_length": 380,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_017021020.2",
"protein_id": "XP_016876509.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 459,
"cds_start": 524,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_047431001.1",
"protein_id": "XP_047286957.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 459,
"cds_start": 524,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_047431002.1",
"protein_id": "XP_047286958.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 459,
"cds_start": 524,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_017021021.2",
"protein_id": "XP_016876510.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 441,
"cds_start": 524,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_047431003.1",
"protein_id": "XP_047286959.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 441,
"cds_start": 524,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_047431004.1",
"protein_id": "XP_047286960.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 438,
"cds_start": 524,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Cys152Tyr",
"transcript": "XM_017021022.2",
"protein_id": "XP_016876511.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 436,
"cds_start": 455,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr",
"transcript": "XM_017021023.2",
"protein_id": "XP_016876512.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 435,
"cds_start": 524,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Cys152Tyr",
"transcript": "XM_047431005.1",
"protein_id": "XP_047286961.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 433,
"cds_start": 455,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Cys152Tyr",
"transcript": "XM_047431006.1",
"protein_id": "XP_047286962.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 415,
"cds_start": 455,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.2,
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"phylop100way_prediction": "Benign",
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"acmg_score": 1,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000267488.9",
"gene_symbol": "SLC38A6",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Cys175Tyr"
},
{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000826433.1",
"gene_symbol": "ENSG00000307460",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.333-4378C>T",
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},
{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_943921.2",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.297+4091C>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}