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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: 17-58206159-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58206159&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58206159,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001321269.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1600C>A",
"hgvs_p": "p.Arg534Arg",
"transcript": "NM_017777.4",
"protein_id": "NP_060247.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 559,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "ENST00000393119.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017777.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1600C>A",
"hgvs_p": "p.Arg534Arg",
"transcript": "ENST00000393119.7",
"protein_id": "ENSP00000376827.2",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 559,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "NM_017777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393119.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000537529.7",
"protein_id": "ENSP00000442096.3",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 416,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537529.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ser506*",
"transcript": "NM_001321269.2",
"protein_id": "NP_001308198.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 561,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321269.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ser506*",
"transcript": "ENST00000678463.1",
"protein_id": "ENSP00000502984.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 561,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678463.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1526C>A",
"hgvs_p": "p.Ser509*",
"transcript": "XM_011524957.3",
"protein_id": "XP_011523259.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 564,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524957.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1088C>A",
"hgvs_p": "p.Ser363*",
"transcript": "XM_005257485.5",
"protein_id": "XP_005257542.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 418,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257485.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Ser303*",
"transcript": "XM_047436333.1",
"protein_id": "XP_047292289.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 358,
"cds_start": 908,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436333.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1633C>A",
"hgvs_p": "p.Arg545Arg",
"transcript": "ENST00000966002.1",
"protein_id": "ENSP00000636061.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 570,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966002.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1576C>A",
"hgvs_p": "p.Arg526Arg",
"transcript": "ENST00000872459.1",
"protein_id": "ENSP00000542518.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 551,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872459.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1543C>A",
"hgvs_p": "p.Arg515Arg",
"transcript": "ENST00000872460.1",
"protein_id": "ENSP00000542519.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 540,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872460.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1471C>A",
"hgvs_p": "p.Arg491Arg",
"transcript": "ENST00000676787.1",
"protein_id": "ENSP00000503999.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 516,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676787.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Arg331Arg",
"transcript": "NM_001321268.2",
"protein_id": "NP_001308197.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 356,
"cds_start": 991,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321268.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1609C>A",
"hgvs_p": "p.Arg537Arg",
"transcript": "XM_011524958.3",
"protein_id": "XP_011523260.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 562,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524958.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.*12C>A",
"hgvs_p": null,
"transcript": "NM_001330397.2",
"protein_id": "NP_001317326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330397.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.*12C>A",
"hgvs_p": null,
"transcript": "ENST00000313863.11",
"protein_id": "ENSP00000316631.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313863.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*1007C>A",
"hgvs_p": null,
"transcript": "ENST00000393120.6",
"protein_id": "ENSP00000376828.2",
"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,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393120.6"
},
{
"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": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.426C>A",
"hgvs_p": null,
"transcript": "ENST00000583577.1",
"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,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000583577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*1219C>A",
"hgvs_p": null,
"transcript": "ENST00000675753.2",
"protein_id": "ENSP00000502156.1",
"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": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675753.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*1074C>A",
"hgvs_p": null,
"transcript": "ENST00000677111.1",
"protein_id": "ENSP00000504282.1",
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.2874C>A",
"hgvs_p": null,
"transcript": "ENST00000677160.1",
"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": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.2921C>A",
"hgvs_p": null,
"transcript": "ENST00000677416.1",
"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": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677416.1"
},
{
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{
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"pathogenic_score": 4,
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"verdict": "Likely_benign",
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],
"clinvar_disease": " type 1,Bardet-Biedl syndrome 13,Joubert syndrome,Joubert syndrome 28,Meckel syndrome,Meckel-Gruber syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome, type 1|Joubert syndrome;Meckel-Gruber syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}