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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: 7-126533324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=126533324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 126533324,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001371086.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_000845.3",
"protein_id": "NP_000836.2",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": "ENST00000339582.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000845.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "ENST00000339582.7",
"protein_id": "ENSP00000344173.2",
"transcript_support_level": 5,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": "NM_000845.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339582.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "ENST00000358373.8",
"protein_id": "ENSP00000351142.3",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358373.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.*623G>A",
"hgvs_p": null,
"transcript": "ENST00000341617.7",
"protein_id": "ENSP00000345747.3",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000341617.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.*623G>A",
"hgvs_p": null,
"transcript": "ENST00000341617.7",
"protein_id": "ENSP00000345747.3",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000341617.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_001371086.1",
"protein_id": "NP_001358015.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 928,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371086.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "ENST00000706915.1",
"protein_id": "ENSP00000516623.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 928,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706915.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_001127323.1",
"protein_id": "NP_001120795.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2615,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127323.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_001371083.1",
"protein_id": "NP_001358012.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371083.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_001371084.1",
"protein_id": "NP_001358013.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371084.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "NM_001371085.1",
"protein_id": "NP_001358014.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371085.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "ENST00000706916.1",
"protein_id": "ENSP00000516624.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706916.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ala686Ala",
"transcript": "ENST00000706917.1",
"protein_id": "ENSP00000516625.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706917.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "NM_001371087.1",
"protein_id": "NP_001358016.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371087.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1575G>A",
"hgvs_p": "p.Ala525Ala",
"transcript": "XM_047420269.1",
"protein_id": "XP_047276225.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 747,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420269.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Ala492Ala",
"transcript": "XM_047420270.1",
"protein_id": "XP_047276226.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 714,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420270.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_017012075.2",
"protein_id": "XP_016867564.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012075.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_017012076.2",
"protein_id": "XP_016867565.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012076.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_017012077.2",
"protein_id": "XP_016867566.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012077.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_017012078.2",
"protein_id": "XP_016867567.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012078.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_017012079.2",
"protein_id": "XP_016867568.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 703,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012079.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.1443G>A",
"hgvs_p": "p.Ala481Ala",
"transcript": "XM_047420271.1",
"protein_id": "XP_047276227.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
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"bayesdelnoaf_score": -0.61,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
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],
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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"effects": [
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],
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},
{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_927937.3",
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"effects": [
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],
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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
}