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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: 22-50064163-T-TAGCAGCAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50064163&ref=T&alt=TAGCAGCAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50064163,
"ref": "T",
"alt": "TAGCAGCAGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000311597.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_015166.4",
"protein_id": "NP_055981.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "ENST00000311597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "ENST00000311597.10",
"protein_id": "ENSP00000310375.6",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "NM_015166.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "ENST00000395876.6",
"protein_id": "ENSP00000379216.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376472.1",
"protein_id": "NP_001363401.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376473.1",
"protein_id": "NP_001363402.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376474.1",
"protein_id": "NP_001363403.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376475.1",
"protein_id": "NP_001363404.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376476.1",
"protein_id": "NP_001363405.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376477.1",
"protein_id": "NP_001363406.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_001376478.1",
"protein_id": "NP_001363407.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup",
"transcript": "NM_139202.3",
"protein_id": "NP_631941.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.864_872dupGCTGCTGCT",
"hgvs_p": "p.Leu289_Leu291dup",
"transcript": "NM_001376479.1",
"protein_id": "NP_001363408.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 358,
"cds_start": 872,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.831_839dupGCTGCTGCT",
"hgvs_p": "p.Leu278_Leu280dup",
"transcript": "NM_001376480.1",
"protein_id": "NP_001363409.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 347,
"cds_start": 839,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.819_827dupGCTGCTGCT",
"hgvs_p": "p.Leu274_Leu276dup",
"transcript": "NM_001376481.1",
"protein_id": "NP_001363410.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 343,
"cds_start": 827,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.765_773dupGCTGCTGCT",
"hgvs_p": "p.Leu256_Leu258dup",
"transcript": "NM_001376482.1",
"protein_id": "NP_001363411.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 325,
"cds_start": 773,
"cds_end": null,
"cds_length": 978,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.765_773dupGCTGCTGCT",
"hgvs_p": "p.Leu256_Leu258dup",
"transcript": "NM_001376483.1",
"protein_id": "NP_001363412.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 325,
"cds_start": 773,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.684_692dupGCTGCTGCT",
"hgvs_p": "p.Leu229_Leu231dup",
"transcript": "NM_001376484.1",
"protein_id": "NP_001363413.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 298,
"cds_start": 692,
"cds_end": null,
"cds_length": 897,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 3219,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.278_286dupGCTGCTGCT",
"hgvs_p": null,
"transcript": "ENST00000483836.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 613,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1268_1276dupGCTGCTGCT",
"hgvs_p": null,
"transcript": "NR_164811.1",
"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": 2373,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1052_1060dupGCTGCTGCT",
"hgvs_p": null,
"transcript": "NR_164812.1",
"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": 2205,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1445_1453dupGCTGCTGCT",
"hgvs_p": null,
"transcript": "NR_164813.1",
"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": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"dbsnp": "rs761096481",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.938,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000311597.10",
"gene_symbol": "MLC1",
"hgnc_id": 17082,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.921_929dupGCTGCTGCT",
"hgvs_p": "p.Leu308_Leu310dup"
}
],
"clinvar_disease": "Megalencephalic leukoencephalopathy with subcortical cysts 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Megalencephalic leukoencephalopathy with subcortical cysts 1|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}