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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: 7-75149075-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75149075&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75149075,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001368302.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2628G>C",
"hgvs_p": "p.Thr876Thr",
"transcript": "NM_001003795.3",
"protein_id": "NP_001003795.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 949,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000472837.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003795.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2628G>C",
"hgvs_p": "p.Thr876Thr",
"transcript": "ENST00000472837.7",
"protein_id": "ENSP00000480524.1",
"transcript_support_level": 1,
"aa_start": 876,
"aa_end": null,
"aa_length": 949,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003795.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472837.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "n.*1903G>C",
"hgvs_p": null,
"transcript": "ENST00000418185.6",
"protein_id": "ENSP00000411454.3",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418185.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "n.2316G>C",
"hgvs_p": null,
"transcript": "ENST00000611835.4",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000611835.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "n.*1903G>C",
"hgvs_p": null,
"transcript": "ENST00000418185.6",
"protein_id": "ENSP00000411454.3",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418185.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.3129G>C",
"hgvs_p": "p.Thr1043Thr",
"transcript": "ENST00000651028.1",
"protein_id": "ENSP00000499147.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3129,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651028.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.3114G>C",
"hgvs_p": "p.Thr1038Thr",
"transcript": "NM_001368302.1",
"protein_id": "NP_001355231.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368302.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2643G>C",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000888756.1",
"protein_id": "ENSP00000558815.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 954,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888756.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2628G>C",
"hgvs_p": "p.Thr876Thr",
"transcript": "ENST00000888762.1",
"protein_id": "ENSP00000558821.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 949,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888762.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2628G>C",
"hgvs_p": "p.Thr876Thr",
"transcript": "ENST00000888768.1",
"protein_id": "ENSP00000558827.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 949,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888768.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2577G>C",
"hgvs_p": "p.Thr859Thr",
"transcript": "ENST00000958673.1",
"protein_id": "ENSP00000628732.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 932,
"cds_start": 2577,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958673.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2565G>C",
"hgvs_p": "p.Thr855Thr",
"transcript": "ENST00000958680.1",
"protein_id": "ENSP00000628739.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 928,
"cds_start": 2565,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958680.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2562G>C",
"hgvs_p": "p.Thr854Thr",
"transcript": "ENST00000888767.1",
"protein_id": "ENSP00000558826.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 927,
"cds_start": 2562,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888767.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2559G>C",
"hgvs_p": "p.Thr853Thr",
"transcript": "ENST00000888764.1",
"protein_id": "ENSP00000558823.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 926,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888764.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2550G>C",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000888759.1",
"protein_id": "ENSP00000558818.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 923,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888759.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2550G>C",
"hgvs_p": "p.Thr850Thr",
"transcript": "ENST00000888761.1",
"protein_id": "ENSP00000558820.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 923,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888761.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2544G>C",
"hgvs_p": "p.Thr848Thr",
"transcript": "ENST00000888758.1",
"protein_id": "ENSP00000558817.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 921,
"cds_start": 2544,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888758.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2508G>C",
"hgvs_p": "p.Thr836Thr",
"transcript": "ENST00000888763.1",
"protein_id": "ENSP00000558822.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 909,
"cds_start": 2508,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888763.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2505G>C",
"hgvs_p": "p.Thr835Thr",
"transcript": "ENST00000958677.1",
"protein_id": "ENSP00000628736.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 908,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958677.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2430G>C",
"hgvs_p": "p.Thr810Thr",
"transcript": "ENST00000888760.1",
"protein_id": "ENSP00000558819.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 883,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888760.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2430G>C",
"hgvs_p": "p.Thr810Thr",
"transcript": "ENST00000958675.1",
"protein_id": "ENSP00000628734.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 883,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958675.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.2415G>C",
"hgvs_p": "p.Thr805Thr",
"transcript": "ENST00000888757.1",
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{
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{
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{
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{
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},
{
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],
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],
"gene_symbol": "GTF2IRD2B",
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"dbsnp": "rs782523521",
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"hom_count_reference_population": null,
"allele_count_reference_population": null,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.03,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -7,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001368302.1",
"gene_symbol": "GTF2IRD2B",
"hgnc_id": 33125,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}