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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: 2-151497713-T-TAAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151497713&ref=T&alt=TAAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151497713,
"ref": "T",
"alt": "TAAC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "n.579-71_579-69dupACA",
"hgvs_p": null,
"transcript": "ENST00000457745.1",
"protein_id": null,
"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": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 172,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24315_24317dupGTT",
"hgvs_p": "p.Leu8106dup",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8106,
"aa_end": null,
"aa_length": 8560,
"cds_start": 24317,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 24509,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.609_611dupGTT",
"hgvs_p": "p.Leu204dup",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 658,
"cds_start": 611,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.645_647dupGTT",
"hgvs_p": "p.Leu216dup",
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 399,
"cds_start": 647,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24117_24119dupGTT",
"hgvs_p": "p.Leu8040dup",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8040,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24119,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24311,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24117_24119dupGTT",
"hgvs_p": "p.Leu8040dup",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8040,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24119,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24311,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24117_24119dupGTT",
"hgvs_p": "p.Leu8040dup",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8040,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24119,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24311,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24099_24101dupGTT",
"hgvs_p": "p.Leu8034dup",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8034,
"aa_end": null,
"aa_length": 8488,
"cds_start": 24101,
"cds_end": null,
"cds_length": 25467,
"cdna_start": 24293,
"cdna_end": null,
"cdna_length": 26080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24024_24026dupGTT",
"hgvs_p": "p.Leu8009dup",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8009,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24026,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24218,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24210_24212dupGTT",
"hgvs_p": "p.Leu8071dup",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24212,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24404,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24024_24026dupGTT",
"hgvs_p": "p.Leu8009dup",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 8009,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24026,
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"cds_length": 25392,
"cdna_start": 24218,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24006_24008dupGTT",
"hgvs_p": "p.Leu8003dup",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 8003,
"aa_end": null,
"aa_length": 8457,
"cds_start": 24008,
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"cds_length": 25374,
"cdna_start": 24200,
"cdna_end": null,
"cdna_length": 25987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23931_23933dupGTT",
"hgvs_p": "p.Leu7978dup",
"transcript": "XM_005246599.3",
"protein_id": "XP_005246656.1",
"transcript_support_level": null,
"aa_start": 7978,
"aa_end": null,
"aa_length": 8432,
"cds_start": 23933,
"cds_end": null,
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"cdna_start": 24125,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 167,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23838_23840dupGTT",
"hgvs_p": "p.Leu7947dup",
"transcript": "XM_005246602.3",
"protein_id": "XP_005246659.1",
"transcript_support_level": null,
"aa_start": 7947,
"aa_end": null,
"aa_length": 8401,
"cds_start": 23840,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 24032,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23931_23933dupGTT",
"hgvs_p": "p.Leu7978dup",
"transcript": "XM_047444478.1",
"protein_id": "XP_047300434.1",
"transcript_support_level": null,
"aa_start": 7978,
"aa_end": null,
"aa_length": 8401,
"cds_start": 23933,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 24125,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
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"phylop100way_score": 3.082,
"phylop100way_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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],
"clinvar_disease": "Nemaline myopathy 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Nemaline myopathy 2|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}