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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: 2-151499352-GAT-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151499352&ref=GAT&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NEB",
"hgnc_id": 7720,
"hgvs_c": "c.24163_24165delATCinsCTA",
"hgvs_p": "p.Ile8055Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001271208.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"hgvs_c": "n.*521_*523delGATinsTAG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000454583.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164507.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000427231.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157979.2",
"strand": false,
"transcript": "NM_001164507.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164508.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397345.8",
"protein_coding": true,
"protein_id": "NP_001157980.2",
"strand": false,
"transcript": "NM_001164508.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397345.8",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001164508.2",
"protein_coding": true,
"protein_id": "ENSP00000380505.3",
"strand": false,
"transcript": "ENST00000397345.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427231.7",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001164507.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416578.2",
"strand": false,
"transcript": "ENST00000427231.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8560,
"aa_ref": "I",
"aa_start": 8055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26296,
"cdna_start": 24357,
"cds_end": null,
"cds_length": 25683,
"cds_start": 24163,
"consequences": [
"missense_variant"
],
"exon_count": 183,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271208.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24163_24165delATCinsCTA",
"hgvs_p": "p.Ile8055Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258137.2",
"strand": false,
"transcript": "NM_001271208.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "I",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 845,
"cds_end": null,
"cds_length": 2175,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688578.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.841_843delATCinsCTA",
"hgvs_p": "p.Ile281Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509628.1",
"strand": false,
"transcript": "ENST00000688578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "I",
"aa_start": 7989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24159,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23965,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246590.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23965_23967delATCinsCTA",
"hgvs_p": "p.Ile7989Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246647.1",
"strand": false,
"transcript": "XM_005246590.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246592.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246649.1",
"strand": false,
"transcript": "XM_005246592.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "I",
"aa_start": 8020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246593.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246650.1",
"strand": false,
"transcript": "XM_005246593.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "I",
"aa_start": 7989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24159,
"cds_end": null,
"cds_length": 25485,
"cds_start": 23965,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246594.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23965_23967delATCinsCTA",
"hgvs_p": "p.Ile7989Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246651.1",
"strand": false,
"transcript": "XM_005246594.3",
"transcript_support_level": null
},
{
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"aa_length": 8488,
"aa_ref": "I",
"aa_start": 7983,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26080,
"cdna_start": 24141,
"cds_end": null,
"cds_length": 25467,
"cds_start": 23947,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004177.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23947_23949delATCinsCTA",
"hgvs_p": "p.Ile7983Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859666.1",
"strand": false,
"transcript": "XM_017004177.2",
"transcript_support_level": null
},
{
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"aa_length": 8463,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25392,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246597.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246654.1",
"strand": false,
"transcript": "XM_005246597.3",
"transcript_support_level": null
},
{
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"aa_length": 8463,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 24252,
"cds_end": null,
"cds_length": 25392,
"cds_start": 24058,
"consequences": [
"missense_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246598.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24058_24060delATCinsCTA",
"hgvs_p": "p.Ile8020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246655.1",
"strand": false,
"transcript": "XM_005246598.3",
"transcript_support_level": null
},
{
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"aa_length": 8463,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 24066,
"cds_end": null,
"cds_length": 25392,
"cds_start": 23872,
"consequences": [
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],
"exon_count": 180,
"exon_rank": null,
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"feature": "XM_017004178.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23872_23874delATCinsCTA",
"hgvs_p": "p.Ile7958Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859667.1",
"strand": false,
"transcript": "XM_017004178.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 8457,
"aa_ref": "I",
"aa_start": 7952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25987,
"cdna_start": 24048,
"cds_end": null,
"cds_length": 25374,
"cds_start": 23854,
"consequences": [
"missense_variant"
],
"exon_count": 180,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444477.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23854_23856delATCinsCTA",
"hgvs_p": "p.Ile7952Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300433.1",
"strand": false,
"transcript": "XM_047444477.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 8282,
"aa_ref": "I",
"aa_start": 7777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25462,
"cdna_start": 23523,
"cds_end": null,
"cds_length": 24849,
"cds_start": 23329,
"consequences": [
"missense_variant"
],
"exon_count": 178,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246612.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23329_23331delATCinsCTA",
"hgvs_p": "p.Ile7777Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246669.1",
"strand": false,
"transcript": "XM_005246612.3",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 23523,
"cds_end": null,
"cds_length": 24849,
"cds_start": 23329,
"consequences": [
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],
"exon_count": 179,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246613.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.23329_23331delATCinsCTA",
"hgvs_p": "p.Ile7777Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246670.1",
"strand": false,
"transcript": "XM_005246613.3",
"transcript_support_level": null
},
{
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"aa_length": 7796,
"aa_ref": "I",
"aa_start": 7291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24004,
"cdna_start": 22065,
"cds_end": null,
"cds_length": 23391,
"cds_start": 21871,
"consequences": [
"missense_variant"
],
"exon_count": 171,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511226.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.21871_21873delATCinsCTA",
"hgvs_p": "p.Ile7291Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509528.1",
"strand": false,
"transcript": "XM_011511226.3",
"transcript_support_level": null
},
{
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"aa_length": 7553,
"aa_ref": "I",
"aa_start": 7048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23275,
"cdna_start": 21336,
"cds_end": null,
"cds_length": 22662,
"cds_start": 21142,
"consequences": [
"missense_variant"
],
"exon_count": 166,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246617.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.21142_21144delATCinsCTA",
"hgvs_p": "p.Ile7048Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246674.1",
"strand": false,
"transcript": "XM_005246617.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 7067,
"aa_ref": "I",
"aa_start": 6562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21817,
"cdna_start": 19878,
"cds_end": null,
"cds_length": 21204,
"cds_start": 19684,
"consequences": [
"missense_variant"
],
"exon_count": 158,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511227.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.19684_19686delATCinsCTA",
"hgvs_p": "p.Ile6562Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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