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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: 2-43800845-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43800845&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYNC2LI1",
"hgnc_id": 24595,
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001348913.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1056,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016008.4",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.659_660delCCinsTT",
"hgvs_p": "p.Thr220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260605.12",
"protein_coding": true,
"protein_id": "NP_057092.2",
"strand": true,
"transcript": "NM_016008.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1056,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000260605.12",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.659_660delCCinsTT",
"hgvs_p": "p.Thr220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016008.4",
"protein_coding": true,
"protein_id": "ENSP00000260605.8",
"strand": true,
"transcript": "ENST00000260605.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 352,
"aa_ref": "T",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1059,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000605786.5",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474032.1",
"strand": true,
"transcript": "ENST00000605786.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 317,
"aa_ref": "T",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1253,
"cdna_start": 610,
"cds_end": null,
"cds_length": 954,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378587.3",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.608_609delCCinsTT",
"hgvs_p": "p.Thr203Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367850.3",
"strand": true,
"transcript": "ENST00000378587.3",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 391,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1176,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965103.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.659_660delCCinsTT",
"hgvs_p": "p.Thr220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635162.1",
"strand": true,
"transcript": "ENST00000965103.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "T",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1173,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857666.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.776_777delCCinsTT",
"hgvs_p": "p.Thr259Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527725.1",
"strand": true,
"transcript": "ENST00000857666.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 374,
"aa_ref": "T",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1125,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348913.2",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335842.1",
"strand": true,
"transcript": "NM_001348913.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1122,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348912.2",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.659_660delCCinsTT",
"hgvs_p": "p.Thr220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335841.1",
"strand": true,
"transcript": "NM_001348912.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 370,
"aa_ref": "T",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1113,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857671.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527730.1",
"strand": true,
"transcript": "ENST00000857671.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 352,
"aa_ref": "T",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1059,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193464.2",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180393.1",
"strand": true,
"transcript": "NM_001193464.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 348,
"aa_ref": "T",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1047,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965102.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.662_663delCCinsTT",
"hgvs_p": "p.Thr221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635161.1",
"strand": true,
"transcript": "ENST00000965102.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 347,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1044,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857669.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.659_660delCCinsTT",
"hgvs_p": "p.Thr220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527728.1",
"strand": true,
"transcript": "ENST00000857669.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1005,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857668.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.608_609delCCinsTT",
"hgvs_p": "p.Thr203Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527727.1",
"strand": true,
"transcript": "ENST00000857668.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 333,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1002,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857665.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.605_606delCCinsTT",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527724.1",
"strand": true,
"transcript": "ENST00000857665.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 328,
"aa_ref": "T",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 649,
"cds_end": null,
"cds_length": 987,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857670.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.590_591delCCinsTT",
"hgvs_p": "p.Thr197Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527729.1",
"strand": true,
"transcript": "ENST00000857670.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 326,
"aa_ref": "T",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": 663,
"cds_end": null,
"cds_length": 981,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965101.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.584_585delCCinsTT",
"hgvs_p": "p.Thr195Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635160.1",
"strand": true,
"transcript": "ENST00000965101.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "T",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 656,
"cds_end": null,
"cds_length": 978,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857667.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.581_582delCCinsTT",
"hgvs_p": "p.Thr194Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527726.1",
"strand": true,
"transcript": "ENST00000857667.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 302,
"aa_ref": "T",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 584,
"cds_end": null,
"cds_length": 909,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965104.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.512_513delCCinsTT",
"hgvs_p": "p.Thr171Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635163.1",
"strand": true,
"transcript": "ENST00000965104.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "T",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": 574,
"cds_end": null,
"cds_length": 897,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911569.1",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "c.500_501delCCinsTT",
"hgvs_p": "p.Thr167Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581628.1",
"strand": true,
"transcript": "ENST00000911569.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000489222.6",
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"hgvs_c": "n.615_616delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489222.6",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 24595,
"gene_symbol": "DYNC2LI1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
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"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.469,
"pos": 43800845,
"ref": "CC",
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"splice_prediction_selected": null,
"splice_score_selected": null,
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"transcript": "NM_001348913.2"
}
]
}