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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: 1-43971438-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43971438&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43971438,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001384.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Ser179Thr",
"transcript": "NM_001384.5",
"protein_id": "NP_001375.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 489,
"cds_start": 536,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255108.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Ser179Thr",
"transcript": "ENST00000255108.8",
"protein_id": "ENSP00000255108.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 489,
"cds_start": 536,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255108.8"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Ser185Thr",
"transcript": "ENST00000922599.1",
"protein_id": "ENSP00000592658.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 495,
"cds_start": 554,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922599.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Ser179Thr",
"transcript": "ENST00000955917.1",
"protein_id": "ENSP00000625976.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 491,
"cds_start": 536,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955917.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Ser175Thr",
"transcript": "ENST00000922600.1",
"protein_id": "ENSP00000592659.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 485,
"cds_start": 524,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922600.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Ser154Thr",
"transcript": "ENST00000866492.1",
"protein_id": "ENSP00000536551.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 464,
"cds_start": 461,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866492.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Ser103Thr",
"transcript": "NM_001319165.2",
"protein_id": "NP_001306094.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 413,
"cds_start": 308,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319165.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Ser103Thr",
"transcript": "NM_001319168.2",
"protein_id": "NP_001306097.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 413,
"cds_start": 308,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319168.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Ser87Thr",
"transcript": "ENST00000955916.1",
"protein_id": "ENSP00000625975.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 397,
"cds_start": 260,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955916.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Ser44Thr",
"transcript": "NM_001319169.2",
"protein_id": "NP_001306098.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 354,
"cds_start": 131,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319169.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.92G>C",
"hgvs_p": "p.Ser31Thr",
"transcript": "NM_001319171.2",
"protein_id": "NP_001306100.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 341,
"cds_start": 92,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319171.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Ser52Thr",
"transcript": "XM_047448067.1",
"protein_id": "XP_047304023.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 362,
"cds_start": 155,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448067.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Ser52Thr",
"transcript": "XM_047448070.1",
"protein_id": "XP_047304026.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 362,
"cds_start": 155,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "NM_001319167.2",
"protein_id": "NP_001306096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319167.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "NM_001319170.2",
"protein_id": "NP_001306099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319170.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.485-222G>C",
"hgvs_p": null,
"transcript": "NM_001319166.2",
"protein_id": "NP_001306095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319166.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.484+249G>C",
"hgvs_p": null,
"transcript": "ENST00000866491.1",
"protein_id": "ENSP00000536550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.484+249G>C",
"hgvs_p": null,
"transcript": "ENST00000922601.1",
"protein_id": "ENSP00000592660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.77-222G>C",
"hgvs_p": null,
"transcript": "ENST00000459879.1",
"protein_id": "ENSP00000432162.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.484+249G>C",
"hgvs_p": null,
"transcript": "NM_001039589.2",
"protein_id": "NP_001034678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039589.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.484+249G>C",
"hgvs_p": null,
"transcript": "ENST00000396758.6",
"protein_id": "ENSP00000379981.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396758.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPH2",
"gene_hgnc_id": 3004,
"hgvs_c": "c.209-720G>C",
"hgvs_p": null,
"transcript": "ENST00000866490.1",
"protein_id": "ENSP00000536549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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],
"gene_symbol": "DPH2",
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"dbsnp": "rs1270622734",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_genomes_af": 0.0000065697,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13211417198181152,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.084,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.011,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001384.5",
"gene_symbol": "DPH2",
"hgnc_id": 3004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Ser179Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647729.2",
"gene_symbol": "ENSG00000285649",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}