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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: 22-42619859-ACAT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42619859&ref=ACAT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42619859,
"ref": "ACAT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000352397.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.817_819delATG",
"hgvs_p": "p.Met273del",
"transcript": "NM_000398.7",
"protein_id": "NP_000389.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 301,
"cds_start": 817,
"cds_end": null,
"cds_length": 906,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000352397.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.817_819delATG",
"hgvs_p": "p.Met273del",
"transcript": "ENST00000352397.10",
"protein_id": "ENSP00000338461.6",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 301,
"cds_start": 817,
"cds_end": null,
"cds_length": 906,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_000398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.835_837delATG",
"hgvs_p": "p.Met279del",
"transcript": "ENST00000407332.6",
"protein_id": "ENSP00000384457.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 307,
"cds_start": 835,
"cds_end": null,
"cds_length": 924,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2951_2953delATG",
"hgvs_p": null,
"transcript": "ENST00000470741.1",
"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": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.352_354delATG",
"hgvs_p": null,
"transcript": "ENST00000617178.5",
"protein_id": "ENSP00000482500.2",
"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": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.949_951delATG",
"hgvs_p": "p.Met317del",
"transcript": "ENST00000361740.9",
"protein_id": "ENSP00000354468.5",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 345,
"cds_start": 949,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.916_918delATG",
"hgvs_p": "p.Met306del",
"transcript": "NM_001171660.2",
"protein_id": "NP_001165131.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 334,
"cds_start": 916,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.916_918delATG",
"hgvs_p": "p.Met306del",
"transcript": "ENST00000688117.1",
"protein_id": "ENSP00000509015.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 334,
"cds_start": 916,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.859_861delATG",
"hgvs_p": "p.Met287del",
"transcript": "ENST00000693363.1",
"protein_id": "ENSP00000510411.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 315,
"cds_start": 859,
"cds_end": null,
"cds_length": 948,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.817_819delATG",
"hgvs_p": "p.Met273del",
"transcript": "ENST00000693367.1",
"protein_id": "ENSP00000508815.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 298,
"cds_start": 817,
"cds_end": null,
"cds_length": 897,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "NM_001129819.2",
"protein_id": "NP_001123291.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "NM_001171661.1",
"protein_id": "NP_001165132.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "NM_007326.4",
"protein_id": "NP_015565.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "ENST00000402438.6",
"protein_id": "ENSP00000385679.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "ENST00000407623.8",
"protein_id": "ENSP00000384834.3",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "ENST00000687198.1",
"protein_id": "ENSP00000508492.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.748_750delATG",
"hgvs_p": "p.Met250del",
"transcript": "ENST00000692152.1",
"protein_id": "ENSP00000509317.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 278,
"cds_start": 748,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.733_735delATG",
"hgvs_p": "p.Met245del",
"transcript": "ENST00000689195.1",
"protein_id": "ENSP00000509895.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 273,
"cds_start": 733,
"cds_end": null,
"cds_length": 822,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.517_519delATG",
"hgvs_p": "p.Met173del",
"transcript": "ENST00000688244.1",
"protein_id": "ENSP00000510355.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 201,
"cds_start": 517,
"cds_end": null,
"cds_length": 606,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.787_789delATG",
"hgvs_p": "p.Met263del",
"transcript": "XM_047441183.1",
"protein_id": "XP_047297139.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 291,
"cds_start": 787,
"cds_end": null,
"cds_length": 876,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2557_2559delATG",
"hgvs_p": null,
"transcript": "ENST00000684963.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.409_411delATG",
"hgvs_p": null,
"transcript": "ENST00000685184.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}
],
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"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": null,
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"spliceai_max_score": 0,
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"acmg_classification": "Uncertain_significance",
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{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "CYB5R3",
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"effects": [
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],
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"hgvs_p": "p.Met273del"
},
{
"score": 3,
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"criteria": [
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 3,
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"pathogenic_score": 3,
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"PP5"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "ENSG00000270022",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " TYPE II,METHEMOGLOBINEMIA",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "METHEMOGLOBINEMIA, TYPE II",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}