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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: 3-51361872-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51361872&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51361872,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004947.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "NM_004947.5",
"protein_id": "NP_004938.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2030,
"cds_start": 5020,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266037.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004947.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "ENST00000266037.10",
"protein_id": "ENSP00000266037.8",
"transcript_support_level": 1,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2030,
"cds_start": 5020,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004947.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266037.10"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4846A>T",
"hgvs_p": "p.Met1616Leu",
"transcript": "ENST00000945458.1",
"protein_id": "ENSP00000615517.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2013,
"cds_start": 4846,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945458.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4489A>T",
"hgvs_p": "p.Met1497Leu",
"transcript": "ENST00000924010.1",
"protein_id": "ENSP00000594069.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4489,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924010.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "XM_005264914.4",
"protein_id": "XP_005264971.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5020,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264914.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "XM_005264915.4",
"protein_id": "XP_005264972.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2065,
"cds_start": 5020,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264915.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4993A>T",
"hgvs_p": "p.Met1665Leu",
"transcript": "XM_005264916.5",
"protein_id": "XP_005264973.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2062,
"cds_start": 4993,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264916.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4978A>T",
"hgvs_p": "p.Met1660Leu",
"transcript": "XM_005264917.4",
"protein_id": "XP_005264974.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2057,
"cds_start": 4978,
"cds_end": null,
"cds_length": 6174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264917.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4951A>T",
"hgvs_p": "p.Met1651Leu",
"transcript": "XM_047447595.1",
"protein_id": "XP_047303551.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 2048,
"cds_start": 4951,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447595.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4933A>T",
"hgvs_p": "p.Met1645Leu",
"transcript": "XM_006713009.4",
"protein_id": "XP_006713072.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 2042,
"cds_start": 4933,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713009.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4951A>T",
"hgvs_p": "p.Met1651Leu",
"transcript": "XM_047447596.1",
"protein_id": "XP_047303552.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 2042,
"cds_start": 4951,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447596.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "XM_017005825.3",
"protein_id": "XP_016861314.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2024,
"cds_start": 5020,
"cds_end": null,
"cds_length": 6075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005825.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4873A>T",
"hgvs_p": "p.Met1625Leu",
"transcript": "XM_005264918.5",
"protein_id": "XP_005264975.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 2022,
"cds_start": 4873,
"cds_end": null,
"cds_length": 6069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264918.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4993A>T",
"hgvs_p": "p.Met1665Leu",
"transcript": "XM_047447597.1",
"protein_id": "XP_047303553.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2021,
"cds_start": 4993,
"cds_end": null,
"cds_length": 6066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447597.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4993A>T",
"hgvs_p": "p.Met1665Leu",
"transcript": "XM_047447598.1",
"protein_id": "XP_047303554.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2015,
"cds_start": 4993,
"cds_end": null,
"cds_length": 6048,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447598.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4846A>T",
"hgvs_p": "p.Met1616Leu",
"transcript": "XM_047447599.1",
"protein_id": "XP_047303555.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2013,
"cds_start": 4846,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447599.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4951A>T",
"hgvs_p": "p.Met1651Leu",
"transcript": "XM_047447601.1",
"protein_id": "XP_047303557.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 2001,
"cds_start": 4951,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447601.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4933A>T",
"hgvs_p": "p.Met1645Leu",
"transcript": "XM_047447602.1",
"protein_id": "XP_047303558.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 2001,
"cds_start": 4933,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447602.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4933A>T",
"hgvs_p": "p.Met1645Leu",
"transcript": "XM_047447603.1",
"protein_id": "XP_047303559.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1995,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447603.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.4666A>T",
"hgvs_p": "p.Met1556Leu",
"transcript": "XM_047447605.1",
"protein_id": "XP_047303561.1",
"transcript_support_level": null,
"aa_start": 1556,
"aa_end": null,
"aa_length": 1953,
"cds_start": 4666,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447605.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "XM_017005826.3",
"protein_id": "XP_016861315.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005826.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.5020A>T",
"hgvs_p": "p.Met1674Leu",
"transcript": "XM_006713010.4",
"protein_id": "XP_006713073.1",
"transcript_support_level": null,
"aa_start": 1674,
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"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
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}