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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: 14-22774441-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22774441&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22774441,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003982.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "NM_003982.4",
"protein_id": "NP_003973.3",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "ENST00000674313.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003982.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000674313.1",
"protein_id": "ENSP00000501493.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "NM_003982.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674313.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000397528.8",
"protein_id": "ENSP00000380662.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397528.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000397529.6",
"protein_id": "ENSP00000380663.2",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397529.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000397532.9",
"protein_id": "ENSP00000380666.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397532.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000555702.5",
"protein_id": "ENSP00000451881.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555702.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.829C>A",
"hgvs_p": null,
"transcript": "ENST00000554061.5",
"protein_id": null,
"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": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554061.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.419C>A",
"hgvs_p": null,
"transcript": "ENST00000555678.1",
"protein_id": null,
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555678.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "NM_001126105.3",
"protein_id": "NP_001119577.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126105.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "NM_001126106.4",
"protein_id": "NP_001119578.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126106.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000285850.11",
"protein_id": "ENSP00000285850.7",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285850.11"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000555911.2",
"protein_id": "ENSP00000452551.2",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555911.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000894387.1",
"protein_id": "ENSP00000564446.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894387.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "ENST00000941692.1",
"protein_id": "ENSP00000611751.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941692.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Ser120Arg",
"transcript": "ENST00000554517.5",
"protein_id": "ENSP00000452083.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 245,
"cds_start": 360,
"cds_end": null,
"cds_length": 738,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554517.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg",
"transcript": "XM_011537299.2",
"protein_id": "XP_011535601.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 511,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537299.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Ser224Arg",
"transcript": "XM_047431879.1",
"protein_id": "XP_047287835.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 349,
"cds_start": 672,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.238-325C>A",
"hgvs_p": null,
"transcript": "ENST00000556350.1",
"protein_id": "ENSP00000451026.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*121C>A",
"hgvs_p": null,
"transcript": "ENST00000556287.5",
"protein_id": "ENSP00000450715.1",
"transcript_support_level": 5,
"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": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*224C>A",
"hgvs_p": null,
"transcript": "ENST00000698939.1",
"protein_id": "ENSP00000514047.1",
"transcript_support_level": null,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.220C>A",
"hgvs_p": null,
"transcript": "ENST00000698940.1",
"protein_id": null,
"transcript_support_level": null,
"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": 619,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698940.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*121C>A",
"hgvs_p": null,
"transcript": "ENST00000556287.5",
"protein_id": "ENSP00000450715.1",
"transcript_support_level": 5,
"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": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*224C>A",
"hgvs_p": null,
"transcript": "ENST00000698939.1",
"protein_id": "ENSP00000514047.1",
"transcript_support_level": null,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698939.1"
}
],
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"dbsnp": "rs386833799",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9818193912506104,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.868,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.35,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003982.4",
"gene_symbol": "SLC7A7",
"hgnc_id": 11065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Ser386Arg"
}
],
"clinvar_disease": "Lysinuric protein intolerance",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Lysinuric protein intolerance",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}