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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: 10-21651678-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=21651678&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 21651678,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001195626.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "NM_001195626.3",
"protein_id": "NP_001182555.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1068,
"cds_start": 705,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": "ENST00000307729.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195626.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000307729.12",
"protein_id": "ENSP00000307411.7",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 1068,
"cds_start": 705,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": "NM_001195626.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307729.12"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000377059.7",
"protein_id": "ENSP00000366258.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 1068,
"cds_start": 705,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377059.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000377072.8",
"protein_id": "ENSP00000366272.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 1027,
"cds_start": 705,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377072.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000631589.1",
"protein_id": "ENSP00000488569.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 1068,
"cds_start": 705,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631589.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.609T>C",
"hgvs_p": "p.Tyr203Tyr",
"transcript": "ENST00000942647.1",
"protein_id": "ENSP00000612706.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1052,
"cds_start": 609,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942647.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.609T>C",
"hgvs_p": "p.Tyr203Tyr",
"transcript": "ENST00000942648.1",
"protein_id": "ENSP00000612707.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1036,
"cds_start": 609,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942648.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "NM_004641.4",
"protein_id": "NP_004632.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1027,
"cds_start": 705,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004641.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000937604.1",
"protein_id": "ENSP00000607663.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 940,
"cds_start": 705,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937604.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "ENST00000858156.1",
"protein_id": "ENSP00000528215.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 924,
"cds_start": 705,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858156.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000438473.6",
"protein_id": "ENSP00000408281.2",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 762,
"cds_start": 78,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438473.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.-167T>C",
"hgvs_p": null,
"transcript": "NM_001324297.2",
"protein_id": "NP_001311226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324297.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*588T>C",
"hgvs_p": null,
"transcript": "ENST00000650893.1",
"protein_id": "ENSP00000499068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000650921.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000650921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*588T>C",
"hgvs_p": null,
"transcript": "ENST00000651298.1",
"protein_id": "ENSP00000498270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.1617T>C",
"hgvs_p": null,
"transcript": "ENST00000651382.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.65T>C",
"hgvs_p": null,
"transcript": "ENST00000651405.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000651405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000652258.1",
"protein_id": "ENSP00000498869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.1172T>C",
"hgvs_p": null,
"transcript": "NR_136736.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136736.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*588T>C",
"hgvs_p": null,
"transcript": "ENST00000650893.1",
"protein_id": "ENSP00000499068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*588T>C",
"hgvs_p": null,
"transcript": "ENST00000651298.1",
"protein_id": "ENSP00000498270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000652258.1",
"protein_id": "ENSP00000498869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652258.1"
}
],
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"dbsnp": "rs370897151",
"frequency_reference_population": 0.00025005927,
"hom_count_reference_population": 2,
"allele_count_reference_population": 403,
"gnomad_exomes_af": 0.000258327,
"gnomad_genomes_af": 0.000170794,
"gnomad_exomes_ac": 377,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.601,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001195626.3",
"gene_symbol": "MLLT10",
"hgnc_id": 16063,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr"
}
],
"clinvar_disease": "MLLT10-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MLLT10-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}