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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: 1-100011430-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100011430&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100011430,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000533028.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "NM_012243.3",
"protein_id": "NP_036375.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 531,
"cds_end": null,
"cds_length": 978,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 14321,
"mane_select": "ENST00000533028.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000533028.8",
"protein_id": "ENSP00000433849.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 531,
"cds_end": null,
"cds_length": 978,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 14321,
"mane_select": "NM_012243.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000639037.1",
"protein_id": "ENSP00000492745.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 713,
"cds_start": 531,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000638336.1",
"protein_id": "ENSP00000491145.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 220,
"cds_start": 531,
"cds_end": null,
"cds_length": 663,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000638792.1",
"protein_id": "ENSP00000491854.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 689,
"cds_start": 531,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.657G>C",
"hgvs_p": "p.Met219Ile",
"transcript": "NM_001271685.2",
"protein_id": "NP_001258614.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 367,
"cds_start": 657,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 14282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.657G>C",
"hgvs_p": "p.Met219Ile",
"transcript": "ENST00000370153.6",
"protein_id": "ENSP00000359172.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 367,
"cds_start": 657,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000640600.1",
"protein_id": "ENSP00000491789.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 328,
"cds_start": 531,
"cds_end": null,
"cds_length": 987,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "NM_001438725.1",
"protein_id": "NP_001425654.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 531,
"cds_end": null,
"cds_length": 978,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 14420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000427993.7",
"protein_id": "ENSP00000414947.2",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 531,
"cds_end": null,
"cds_length": 978,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000465289.6",
"protein_id": "ENSP00000418527.2",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 531,
"cds_end": null,
"cds_length": 978,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000638371.1",
"protein_id": "ENSP00000491146.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 318,
"cds_start": 531,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000638338.1",
"protein_id": "ENSP00000491533.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 315,
"cds_start": 531,
"cds_end": null,
"cds_length": 948,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000639994.1",
"protein_id": "ENSP00000492135.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 296,
"cds_start": 531,
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"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000639807.1",
"protein_id": "ENSP00000490964.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 287,
"cds_start": 408,
"cds_end": null,
"cds_length": 864,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "NM_001437717.1",
"protein_id": "NP_001424646.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 284,
"cds_start": 408,
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"cdna_start": 593,
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"cdna_length": 14198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000640732.1",
"protein_id": "ENSP00000492771.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 284,
"cds_start": 408,
"cds_end": null,
"cds_length": 855,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "NM_001438728.1",
"protein_id": "NP_001425657.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 269,
"cds_start": 531,
"cds_end": null,
"cds_length": 810,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 14187,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000640715.1",
"protein_id": "ENSP00000492801.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
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"cds_start": 531,
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"cdna_start": 699,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000638988.1",
"protein_id": "ENSP00000492681.1",
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": 257,
"cds_start": 531,
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"cdna_start": 787,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "NM_001437713.1",
"protein_id": "NP_001424642.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 228,
"cds_start": 408,
"cds_end": null,
"cds_length": 687,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 14064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000639221.1",
"protein_id": "ENSP00000492169.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 228,
"cds_start": 408,
"cds_end": null,
"cds_length": 687,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
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}