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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: 17-30944914-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30944914&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30944914,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346712.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "NM_018404.3",
"protein_id": "NP_060874.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 381,
"cds_start": 518,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330889.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018404.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000330889.8",
"protein_id": "ENSP00000329468.3",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 381,
"cds_start": 518,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018404.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330889.8"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "ENST00000580525.6",
"protein_id": "ENSP00000464121.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 387,
"cds_start": 536,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580525.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.581G>T",
"hgvs_p": "p.Ser194Ile",
"transcript": "ENST00000890570.1",
"protein_id": "ENSP00000560629.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 402,
"cds_start": 581,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890570.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "NM_001346712.2",
"protein_id": "NP_001333641.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 387,
"cds_start": 536,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346712.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "ENST00000890568.1",
"protein_id": "ENSP00000560627.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 386,
"cds_start": 536,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890568.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000968793.1",
"protein_id": "ENSP00000638852.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 386,
"cds_start": 518,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968793.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "NM_001346714.2",
"protein_id": "NP_001333643.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 380,
"cds_start": 518,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346714.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000890566.1",
"protein_id": "ENSP00000560625.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 380,
"cds_start": 518,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890566.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "ENST00000890572.1",
"protein_id": "ENSP00000560631.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 361,
"cds_start": 536,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890572.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000890567.1",
"protein_id": "ENSP00000560626.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 359,
"cds_start": 518,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890567.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "NM_001346716.2",
"protein_id": "NP_001333645.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 355,
"cds_start": 518,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346716.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000968789.1",
"protein_id": "ENSP00000638848.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 355,
"cds_start": 518,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968789.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000968790.1",
"protein_id": "ENSP00000638849.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 354,
"cds_start": 518,
"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": "ENST00000968790.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000890571.1",
"protein_id": "ENSP00000560630.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 334,
"cds_start": 518,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890571.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000581285.5",
"protein_id": "ENSP00000464155.1",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 518,
"cds_end": null,
"cds_length": 1000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581285.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Ser173Ile",
"transcript": "ENST00000968792.1",
"protein_id": "ENSP00000638851.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 518,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968792.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.233G>T",
"hgvs_p": "p.Ser78Ile",
"transcript": "ENST00000968794.1",
"protein_id": "ENSP00000638853.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 286,
"cds_start": 233,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968794.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Ser51Ile",
"transcript": "ENST00000581548.5",
"protein_id": "ENSP00000467079.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 113,
"cds_start": 152,
"cds_end": null,
"cds_length": 343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581548.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "XM_024450832.2",
"protein_id": "XP_024306600.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 386,
"cds_start": 536,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450832.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "XM_024450833.2",
"protein_id": "XP_024306601.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 366,
"cds_start": 536,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450833.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile",
"transcript": "XM_024450834.2",
"protein_id": "XP_024306602.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 361,
"cds_start": 536,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450834.2"
},
{
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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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{
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{
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],
"gene_symbol": "ADAP2",
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"dbsnp": "rs368563486",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05274266004562378,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.0796,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.267,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001346712.2",
"gene_symbol": "ADAP2",
"hgnc_id": 16487,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Ser179Ile"
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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
}