← Back to variant description
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: 22-50076841-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50076841&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50076841,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000311597.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_015166.4",
"protein_id": "NP_055981.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "ENST00000311597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000311597.10",
"protein_id": "ENSP00000310375.6",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "NM_015166.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000395876.6",
"protein_id": "ENSP00000379216.2",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376472.1",
"protein_id": "NP_001363401.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376473.1",
"protein_id": "NP_001363402.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376474.1",
"protein_id": "NP_001363403.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376475.1",
"protein_id": "NP_001363404.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376476.1",
"protein_id": "NP_001363405.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376477.1",
"protein_id": "NP_001363406.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376478.1",
"protein_id": "NP_001363407.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_139202.3",
"protein_id": "NP_631941.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376479.1",
"protein_id": "NP_001363408.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 358,
"cds_start": 597,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Ser169Ser",
"transcript": "NM_001376480.1",
"protein_id": "NP_001363409.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 507,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.495A>G",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001376481.1",
"protein_id": "NP_001363410.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 343,
"cds_start": 495,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.441A>G",
"hgvs_p": "p.Ser147Ser",
"transcript": "NM_001376482.1",
"protein_id": "NP_001363411.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 325,
"cds_start": 441,
"cds_end": null,
"cds_length": 978,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.441A>G",
"hgvs_p": "p.Ser147Ser",
"transcript": "NM_001376483.1",
"protein_id": "NP_001363412.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 325,
"cds_start": 441,
"cds_end": null,
"cds_length": 978,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.360A>G",
"hgvs_p": "p.Ser120Ser",
"transcript": "NM_001376484.1",
"protein_id": "NP_001363413.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 298,
"cds_start": 360,
"cds_end": null,
"cds_length": 897,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Ser169Ser",
"transcript": "ENST00000442311.1",
"protein_id": "ENSP00000401385.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 222,
"cds_start": 507,
"cds_end": null,
"cds_length": 669,
"cdna_start": 596,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.944A>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.728A>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1121A>G",
"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": "rs6010164",
"frequency_reference_population": 0.12754168,
"hom_count_reference_population": 13883,
"allele_count_reference_population": 205688,
"gnomad_exomes_af": 0.128747,
"gnomad_genomes_af": 0.115974,
"gnomad_exomes_ac": 188041,
"gnomad_genomes_ac": 17647,
"gnomad_exomes_homalt": 12807,
"gnomad_genomes_homalt": 1076,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.428,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000549154564805662,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000311597.10",
"gene_symbol": "MLC1",
"hgnc_id": 17082,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser"
}
],
"clinvar_disease": "Megalencephalic leukoencephalopathy with subcortical cysts,Megalencephalic leukoencephalopathy with subcortical cysts 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Megalencephalic leukoencephalopathy with subcortical cysts 1|Megalencephalic leukoencephalopathy with subcortical cysts|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}