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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: 6-72197050-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=72197050&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 72197050,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000521978.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "NM_014989.7",
"protein_id": "NP_055804.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1692,
"cds_start": -4,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "ENST00000521978.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000521978.6",
"protein_id": "ENSP00000428417.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1692,
"cds_start": -4,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "NM_014989.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000264839.11",
"protein_id": "ENSP00000264839.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1541,
"cds_start": -4,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000697193.1",
"protein_id": "ENSP00000513179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1515,
"cds_start": -4,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000491071.6",
"protein_id": "ENSP00000430101.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000517960.5",
"protein_id": "ENSP00000429959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": -4,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000518273.5",
"protein_id": "ENSP00000430408.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000520567.5",
"protein_id": "ENSP00000430502.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": -4,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000522291.5",
"protein_id": "ENSP00000430932.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.397+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000517433.5",
"protein_id": "ENSP00000430359.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1037,
"cds_start": -4,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
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"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "n.1999+13901A>G",
"hgvs_p": null,
"transcript": "ENST00000370419.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 6,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "XM_024446369.2",
"protein_id": "XP_024302137.1",
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 6,
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"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
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"transcript": "XM_017010516.3",
"protein_id": "XP_016866005.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 6,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "XM_047418416.1",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
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"transcript": "XM_017010517.3",
"protein_id": "XP_016866006.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "XM_017010518.3",
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},
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],
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
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"transcript": "XM_017010519.3",
"protein_id": "XP_016866008.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
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"transcript": "XM_017010520.3",
"protein_id": "XP_016866009.1",
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},
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"strand": true,
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],
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"intron_rank": 6,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1678+13901A>G",
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],
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"gene_symbol": "RIMS1",
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},
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],
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"gene_symbol": "RIMS1",
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},
{
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"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
"hgvs_p": null,
"transcript": "XM_047418419.1",
"protein_id": "XP_047274375.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1678+13901A>G",
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"transcript": "XM_017010522.3",
"protein_id": "XP_016866011.1",
"transcript_support_level": null,
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