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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: 22-50074276-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50074276&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50074276,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000311597.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_015166.4",
"protein_id": "NP_055981.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "ENST00000311597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "ENST00000311597.10",
"protein_id": "ENSP00000310375.6",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "NM_015166.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "ENST00000395876.6",
"protein_id": "ENSP00000379216.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376472.1",
"protein_id": "NP_001363401.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376473.1",
"protein_id": "NP_001363402.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376474.1",
"protein_id": "NP_001363403.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376475.1",
"protein_id": "NP_001363404.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376476.1",
"protein_id": "NP_001363405.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376477.1",
"protein_id": "NP_001363406.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376478.1",
"protein_id": "NP_001363407.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_139202.3",
"protein_id": "NP_631941.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 377,
"cds_start": 654,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys",
"transcript": "NM_001376479.1",
"protein_id": "NP_001363408.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 358,
"cds_start": 654,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.564C>A",
"hgvs_p": "p.Asn188Lys",
"transcript": "NM_001376480.1",
"protein_id": "NP_001363409.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 564,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Asn184Lys",
"transcript": "NM_001376481.1",
"protein_id": "NP_001363410.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 343,
"cds_start": 552,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "NM_001376482.1",
"protein_id": "NP_001363411.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 325,
"cds_start": 498,
"cds_end": null,
"cds_length": 978,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "NM_001376483.1",
"protein_id": "NP_001363412.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 325,
"cds_start": 498,
"cds_end": null,
"cds_length": 978,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.417C>A",
"hgvs_p": "p.Asn139Lys",
"transcript": "NM_001376484.1",
"protein_id": "NP_001363413.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 298,
"cds_start": 417,
"cds_end": null,
"cds_length": 897,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.564C>A",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000442311.1",
"protein_id": "ENSP00000401385.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 222,
"cds_start": 564,
"cds_end": null,
"cds_length": 669,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 758,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.134C>A",
"hgvs_p": null,
"transcript": "ENST00000470008.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1001C>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.785C>A",
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1178C>A",
"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": "rs41302601",
"frequency_reference_population": 0.003964453,
"hom_count_reference_population": 14,
"allele_count_reference_population": 6399,
"gnomad_exomes_af": 0.0040609,
"gnomad_genomes_af": 0.00303905,
"gnomad_exomes_ac": 5936,
"gnomad_genomes_ac": 463,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014566391706466675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000311597.10",
"gene_symbol": "MLC1",
"hgnc_id": 17082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Asn218Lys"
}
],
"clinvar_disease": "MLC1-related disorder,Megalencephalic leukoencephalopathy with subcortical cysts,Megalencephalic leukoencephalopathy with subcortical cysts 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "Megalencephalic leukoencephalopathy with subcortical cysts 1|not provided|not specified|Megalencephalic leukoencephalopathy with subcortical cysts|MLC1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}