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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: 17-65689206-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65689206&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 65689206,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353129.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "NM_001199165.4",
"protein_id": "NP_001186094.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535342.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199165.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "ENST00000535342.7",
"protein_id": "ENSP00000442784.2",
"transcript_support_level": 2,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199165.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535342.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2494G>A",
"hgvs_p": "p.Glu832Lys",
"transcript": "ENST00000537949.5",
"protein_id": "ENSP00000440775.1",
"transcript_support_level": 1,
"aa_start": 832,
"aa_end": null,
"aa_length": 913,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537949.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Glu130Lys",
"transcript": "ENST00000317442.12",
"protein_id": "ENSP00000320592.5",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 211,
"cds_start": 388,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317442.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Glu907Lys",
"transcript": "ENST00000859226.1",
"protein_id": "ENSP00000529285.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 988,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859226.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Glu875Lys",
"transcript": "NM_001353129.2",
"protein_id": "NP_001340058.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 956,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353129.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Glu875Lys",
"transcript": "ENST00000859224.1",
"protein_id": "ENSP00000529283.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 956,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859224.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Glu875Lys",
"transcript": "ENST00000859225.1",
"protein_id": "ENSP00000529284.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 956,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859225.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Glu875Lys",
"transcript": "ENST00000952586.1",
"protein_id": "ENSP00000622645.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 956,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952586.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "NM_001353127.2",
"protein_id": "NP_001340056.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353127.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "ENST00000392769.6",
"protein_id": "ENSP00000376522.2",
"transcript_support_level": 5,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392769.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "ENST00000932263.1",
"protein_id": "ENSP00000602322.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932263.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Glu874Lys",
"transcript": "ENST00000952582.1",
"protein_id": "ENSP00000622641.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 955,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952582.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Glu873Lys",
"transcript": "ENST00000952577.1",
"protein_id": "ENSP00000622636.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 954,
"cds_start": 2617,
"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": "ENST00000952577.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Glu873Lys",
"transcript": "ENST00000952584.1",
"protein_id": "ENSP00000622643.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 954,
"cds_start": 2617,
"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": "ENST00000952584.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Glu854Lys",
"transcript": "ENST00000952581.1",
"protein_id": "ENSP00000622640.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 935,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952581.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Glu854Lys",
"transcript": "ENST00000952583.1",
"protein_id": "ENSP00000622642.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 935,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952583.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2557G>A",
"hgvs_p": "p.Glu853Lys",
"transcript": "ENST00000952579.1",
"protein_id": "ENSP00000622638.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 934,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952579.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Glu875Lys",
"transcript": "ENST00000859227.1",
"protein_id": "ENSP00000529286.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 922,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859227.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2494G>A",
"hgvs_p": "p.Glu832Lys",
"transcript": "NM_001302891.3",
"protein_id": "NP_001289820.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 913,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302891.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2494G>A",
"hgvs_p": "p.Glu832Lys",
"transcript": "NM_001353128.2",
"protein_id": "NP_001340057.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 913,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353128.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2494G>A",
"hgvs_p": "p.Glu832Lys",
"transcript": "ENST00000859223.1",
"protein_id": "ENSP00000529282.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 913,
"cds_start": 2494,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
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}